AiPD: Autoinhibited Protein Database

Q13765

Gene name	NACA (HSD48)
Protein name	Nascent polypeptide-associated complex subunit alpha
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4666
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-103 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-103 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

8 structures for Q13765

Entry ID	Method	Resolution	Chain	Position	Source
3LKX	X-ray	250 A	B	84-136	PDB
3MCB	X-ray	190 A	A	79-132	PDB
3MCE	X-ray	240 A	A/B/C/D	81-133	PDB
7QWQ	EM	283 A	t	1-215	PDB
7QWR	EM	290 A	t	1-215	PDB
7QWS	EM	340 A	t	1-215	PDB
8P2K	EM	290 A	Na	1-215	PDB
AF-Q13765-F1	Predicted				AlphaFoldDB

84 variants for Q13765

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1308468057 CA385373579	2	P>T		No	ClinGen gnomAD
CA385373570 rs1181426563	3	G>D		No	ClinGen TOPMed
CA6637419 rs777134528	4	E>K		No	ClinGen ExAC gnomAD
CA385373553 rs1361647025	6	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	7	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6637418 rs768837305	8	T>A		No	ClinGen ExAC gnomAD
rs768837305 CA385373540	8	T>P		No	ClinGen ExAC gnomAD
CA385373515 rs1266339906	12	T>S		No	ClinGen Ensembl
CA237693756 rs141524946	14	Q>E		No	ClinGen ESP TOPMed
CA237693751 rs950644707	17	P>R		No	ClinGen TOPMed gnomAD
rs1389885908 CA385373476	18	Q>E		No	ClinGen TOPMed
rs919205998 CA237693738	18	Q>R		No	ClinGen Ensembl
rs772226688 CA6637415	19	P>L		No	ClinGen ExAC gnomAD
rs1310785453 CA385373455	20	Q>R		No	ClinGen TOPMed
CA385352436 rs1351574646	24	G>E		No	ClinGen gnomAD
rs780846428 CA6636100	26	G>R		No	ClinGen ExAC gnomAD
CA6636098 rs746751293	28	E>D		No	ClinGen ExAC TOPMed gnomAD
rs777531581 CA6636097	29	S>Y		No	ClinGen ExAC gnomAD
CA6636095 rs752601094	33	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1188404308 CA385352281	33	E>K		No	ClinGen gnomAD
rs765191035 CA6636094	35	V>E		No	ClinGen ExAC gnomAD
rs755039444 CA6636093	37	E>Q		No	ClinGen ExAC gnomAD
rs1432006073 CA385352222	38	L>I		No	ClinGen gnomAD
COSM219262 CA6636092 COSM219263 rs753879408	38	L>P	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA385352154 rs1477739913	42	D>N		No	ClinGen gnomAD
CA385352126 rs758802708	43	S>F		No	ClinGen gnomAD
CA237683434 rs758802708	43	S>Y		No	ClinGen gnomAD
rs1447768050 CA385352019	50	Q>E		No	ClinGen gnomAD
rs760807270 CA6636090	52	Q>R		No	ClinGen ExAC gnomAD
CA6636070 rs11555460	54	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA385351830 rs1381993354	58	E>A		No	ClinGen TOPMed
CA237683309 rs4902	59	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385351800 rs1172699259	60	D>N		No	ClinGen TOPMed
COSM1299692 rs1377682007 COSM1299693 CA385351781 COSM1299694	61	E>K	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs762218766 CA385351750	62	E>D		No	ClinGen ExAC gnomAD
CA6636065 rs751984054	63	P>L		No	ClinGen ExAC TOPMed gnomAD
CA385351676 rs1173006640	67	A>G		No	ClinGen gnomAD
CA385351678 rs1173006640	67	A>V		No	ClinGen gnomAD
CA385351637 rs1410817270	70	S>R		No	ClinGen gnomAD
CA6636064 rs764594157	71	R>Q		No	ClinGen ExAC gnomAD
CA237683293 rs199686168	74	K>E		No	ClinGen 1000Genomes
CA6636040 rs751896200	84	G>S		No	ClinGen ExAC gnomAD
rs1565891491 CA385351303	86	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs560638525 CA237682928	90	G>E		No	ClinGen 1000Genomes
CA237682926 rs1055341700	95	T>A		No	ClinGen TOPMed
rs1224854276 CA385351197	96	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200634986 CA237682918	97	R>Q		No	ClinGen Ensembl
rs1054514231 CA237682923	97	R>W		No	ClinGen Ensembl
CA237682908 rs11555463	104	F>L		No	ClinGen Ensembl
rs1281783189 CA385351096	105	V>I		No	ClinGen gnomAD
CA6636037 rs753104893	106	I>V		No	ClinGen ExAC gnomAD
rs11611171 CA237682901	108	K>N		No	ClinGen Ensembl
CA6636035 rs760122245	110	D>E		No	ClinGen ExAC gnomAD
CA6636034 rs772715468	111	V>G		No	ClinGen ExAC gnomAD
rs771639337 CA6636033	112	Y>C		No	ClinGen ExAC gnomAD
rs1487448500 CA385351003	113	K>E		No	ClinGen TOPMed
CA6636031 rs200437576	115	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385350967 rs1592308840	116	A>T		No	ClinGen Ensembl
CA385350922 rs373370096	119	T>N		No	ClinGen ESP gnomAD
rs373370096 CA237682884	119	T>S		No	ClinGen ESP gnomAD
CA385350888 rs1273385437	122	V>F		No	ClinGen gnomAD
rs758653483	128	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	130	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	141	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380739745 CA385350305	147	G>S		No	ClinGen gnomAD
rs1565891043 CA385350287	149	A>G		No	ClinGen Ensembl
rs1338734941 CA385350257	154	Q>E		No	ClinGen gnomAD
CA237682651 rs936969767	159	T>A		No	ClinGen TOPMed
CA6635998 rs779325302	159	T>I		No	ClinGen ExAC gnomAD
rs1219215137 CA385350210	161	T>A		No	ClinGen TOPMed
CA6635996 rs754316696	164	E>A		No	ClinGen ExAC TOPMed gnomAD
rs894486492 CA237682639	164	E>K		No	ClinGen Ensembl
rs894486492 CA237682643	164	E>Q		No	ClinGen Ensembl
rs146755279 CA237682633	165	E>Q		No	ClinGen ESP
rs756703844 CA6635994	168	E>D		No	ClinGen ExAC TOPMed gnomAD
rs534417377	171	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA385350089 rs1180352835	171	V>I		No	ClinGen gnomAD
CA6635971 rs149732816	172	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA385350062 rs1222136724	173	E>*		No	ClinGen gnomAD
rs777322987 CA6635970	176	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1319717101 CA385350007	178	V>F		No	ClinGen gnomAD
CA6635965 rs753691485	198	A>T		No	ClinGen ExAC gnomAD
rs1325184778 CA385349673	201	N>S		No	ClinGen gnomAD
TCGA novel	208	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q13765

2 regional properties for Q13765

Type	Name	Position	InterPro Accession
domain	Nascent polypeptide-associated complex NAC domain	70 - 135	IPR002715
domain	Nascent polypeptide-associated complex subunit alpha-like, UBA domain	176 - 214	IPR044034

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	The heterodimer is located mainly in the cytosol, and the homodimer in the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
nascent polypeptide-associated complex	A heterodimeric protein complex that can reversibly bind to ribosomes, and is located in direct proximity to newly synthesized polypeptide chains as they emerge from the ribosome.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

2 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.

13 GO annotations of biological process

Name	Definition
cardiac ventricle development	The process whose specific outcome is the progression of a cardiac ventricle over time, from its formation to the mature structure. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart.
heart trabecula morphogenesis	The process of shaping a trabecula in the heart. A trabecula is a small, often microscopic, tissue element in the form of a small beam, strut or rod, which generally has a mechanical function. Trabecula are usually but not necessarily, composed of dense collagenous tissue.
negative regulation of protein localization to endoplasmic reticulum	Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to endoplasmic reticulum.
negative regulation of striated muscle cell apoptotic process	Any process that decreases the rate or extent of striated muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a striated muscle cell and result in its death.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of cell proliferation involved in heart morphogenesis	Any process that activates or increases the frequency, rate or extent of cell proliferation involved in heart morphogenesis.
positive regulation of skeletal muscle tissue growth	Any process that activates, maintains or increases the rate of skeletal muscle growth.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of skeletal muscle fiber development	Any process that modulates the frequency, rate or extent of skeletal muscle fiber development. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast.
skeletal muscle tissue regeneration	The regrowth of skeletal muscle tissue to repair injured or damaged muscle fibers in the postnatal stage.
translation	The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5E9A1	NACA	Nascent polypeptide-associated complex subunit alpha	Bos taurus (Bovine)	PR
Q94518	Nacalpha	Nascent polypeptide-associated complex subunit alpha	Drosophila melanogaster (Fruit fly)	PR
Q86S66	icd-2	Nascent polypeptide-associated complex subunit alpha	Caenorhabditis elegans	PR
Q94JX9	At3g49470	Nascent polypeptide-associated complex subunit alpha-like protein 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q68F90	naca	Nascent polypeptide-associated complex subunit alpha	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MPGEATETVP	ATEQELPQPQ	AETGSGTESD	SDESVPELEE	QDSTQATTQQ	AQLAAAAEID
70	80	90	100	110	120
EEPVSKAKQS	RSEKKARKAM	SKLGLRQVTG	VTRVTIRKSK	NILFVITKPD	VYKSPASDTY
130	140	150	160	170	180
IVFGEAKIED	LSQQAQLAAA	EKFKVQGEAV	SNIQENTQTP	TVQEESEEEE	VDETGVEVKD
190	200	210
IELVMSQANV	SRAKAVRALK	NNSNDIVNAI	MELTM