AiPD: Autoinhibited Protein Database

Q9GZP4

Gene name	PITHD1 (C1orf128, AD039, HT014, PP603)
Protein name	PITH domain-containing protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57095
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-47 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-47 (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

1 structures for Q9GZP4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9GZP4-F1	Predicted				AlphaFoldDB

123 variants for Q9GZP4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA339021497 rs1172903102	2	S>L		No	ClinGen TOPMed gnomAD
CA339021615 rs1570608045	8	G>S		No	ClinGen Ensembl
rs1427030480 CA339021650	9	G>R		No	ClinGen TOPMed gnomAD
rs990737831 CA19308315	13	R>C		No	ClinGen gnomAD
CA339021743 rs1398784691	13	R>P		No	ClinGen gnomAD
rs990737831 CA19308311	13	R>S		No	ClinGen gnomAD
CA339021798 rs1182668912	15	A>V		No	ClinGen TOPMed
TCGA novel	19	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1302886983 CA339021910	21	P>L		No	ClinGen gnomAD
rs879812010 CA19308339	23	E>K		No	ClinGen TOPMed gnomAD
CA339021945 rs1389007297	25	R>G		No	ClinGen TOPMed gnomAD
rs1570608093 CA339021952	25	R>L		No	ClinGen Ensembl
CA19308353 rs544075726	32	Y>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA339022096 rs1345371502	39	R>W		No	ClinGen TOPMed
CA339022113 rs1434952876	41	Q>*		No	ClinGen TOPMed
TCGA novel	44	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775378415 CA684855	47	R>L		No	ClinGen ExAC TOPMed gnomAD
CA339022203 rs1178668633	49	G>S		No	ClinGen gnomAD
CA339022214 rs1343882367	50	S>C		No	ClinGen TOPMed
CA339022230 rs1422258582	51	G>D		No	ClinGen gnomAD
CA339022250 rs1163481513	53	G>D		No	ClinGen gnomAD
CA339022253 rs1163481513	53	G>V		No	ClinGen gnomAD
rs1392157628 CA339022273	55	F>L		No	ClinGen TOPMed gnomAD
CA339022341 rs1489837190	61	R>Q		No	ClinGen TOPMed
rs753285711 CA684858	65	S>F		No	ClinGen ExAC gnomAD
CA339022802 rs1313546549	68	V>A		No	ClinGen gnomAD
rs1451918214 CA339022794	68	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA339022816 rs1252480912	69	E>D		No	ClinGen TOPMed gnomAD
CA684880 rs11978 CA684879	75	E>D		No	ClinGen ExAC gnomAD
rs1199462596 CA339022931	75	E>Q		No	ClinGen TOPMed gnomAD
CA339023022 rs1268389363	80	I>T		No	ClinGen gnomAD
rs372633376 CA19308783	80	I>V		No	ClinGen ESP TOPMed
CA684881 rs772727731	81	P>A		No	ClinGen ExAC gnomAD
CA339023055 rs1259589215	81	P>L		No	ClinGen TOPMed gnomAD
CA339023054 rs1259589215	81	P>R		No	ClinGen TOPMed gnomAD
CA339023035 rs772727731	81	P>T		No	ClinGen ExAC gnomAD
rs762513868 CA684901	83	T>K		No	ClinGen ExAC TOPMed gnomAD
CA684900 rs762513868	83	T>M		No	ClinGen ExAC TOPMed gnomAD
rs772527828 CA684899	83	T>S		No	ClinGen ExAC gnomAD
CA339023284 rs1231705884	85	N>S		No	ClinGen gnomAD
rs1557465482 CA339023307	87	K>E		No	ClinGen Ensembl
rs759315402 CA684903	89	K>E		No	ClinGen ExAC gnomAD
rs759315402 CA339023376	89	K>Q		No	ClinGen ExAC gnomAD
rs1166274561 CA339023381	89	K>R		No	ClinGen TOPMed
rs767945050 CA684904	90	G>D		No	ClinGen ExAC TOPMed gnomAD
CA339023424 rs1359759881	91	I>V		No	ClinGen TOPMed gnomAD
rs753144897 CA684905	92	I>V		No	ClinGen ExAC gnomAD
rs140586987 CA684907	94	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1343387046 CA339023543	94	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA339023651 rs1354165224	97	D>E		No	ClinGen TOPMed
CA684909 rs145697009	97	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1025768256 CA19308979	98	D>E		No	ClinGen TOPMed
CA339023655 rs1236178312	98	D>N		No	ClinGen gnomAD
CA339023763 rs1335599027	103	S>A		No	ClinGen TOPMed
rs1219398382 CA339023774	103	S>C		No	ClinGen gnomAD
rs1570609460 CA339023812	104	E>D		No	ClinGen Ensembl
CA339023858 rs1488354023	106	R>K		No	ClinGen gnomAD
TCGA novel	109	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1013325959 CA19313269	109	K>Q		No	ClinGen Ensembl
CA339024933 rs1457702783	109	K>R		No	ClinGen TOPMed
rs765312254 CA684932	113	Q>H		No	ClinGen ExAC gnomAD
rs985459981 CA19313286	119	T>I		No	ClinGen TOPMed gnomAD
rs1394877702 CA339025078	121	R>K		No	ClinGen gnomAD
CA339025095 rs1423194733	122	E>*		No	ClinGen gnomAD
rs754571929 CA339025175	125	Q>E		No	ClinGen TOPMed gnomAD
CA19313305 rs754571929	125	Q>K		No	ClinGen TOPMed gnomAD
CA339025184 rs1460320864	125	Q>L		No	ClinGen gnomAD
rs943368160 CA19313307	126	T>S		No	ClinGen TOPMed gnomAD
rs1448266067 CA339025261	128	S>T		No	ClinGen TOPMed gnomAD
rs149241427 CA684939	131	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1198387 rs777478908 CA684938	131	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA684960 rs745864947	145	R>C		No	ClinGen ExAC gnomAD
rs757948298 CA684961	145	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA339025780 rs1387876086	148	N>S		No	ClinGen TOPMed
CA684962 rs200098866	149	V>I		No	ClinGen ExAC TOPMed gnomAD
CA684963 rs137909239	150	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1220962155 CA339025829	151	H>N		No	ClinGen gnomAD
CA19313771 rs113051906	152	L>P		No	ClinGen TOPMed
CA339025853 rs113051906	152	L>R		No	ClinGen TOPMed
rs776987583 CA684965 COSM1667260	152	L>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA339025890 rs1351368302	155	H>R		No	ClinGen gnomAD
CA684966 rs748473629	156	I>V		No	ClinGen ExAC TOPMed gnomAD
CA339025939 rs1286721464	158	K>E		No	ClinGen gnomAD
rs773679668 CA684968	162	A>T		No	ClinGen ExAC gnomAD
rs1245706555 CA339026045	163	D>G		No	ClinGen gnomAD
CA339026058 rs1478164491	164	T>A		No	ClinGen gnomAD
COSM183602 CA684970 rs763501501	164	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763501501 CA684969	164	T>R		No	ClinGen ExAC TOPMed gnomAD
CA684972 rs759740676	166	K>E		No	ClinGen ExAC gnomAD
CA19313829 rs141961131	168	F>C		No	ClinGen ESP TOPMed
rs375607125 CA684974	168	F>I		No	ClinGen ESP ExAC gnomAD
CA339026189 rs1557468613	170	I>T		No	ClinGen Ensembl
rs1323326509 CA339026186	170	I>V		No	ClinGen gnomAD
CA684977 rs568258984	176	W>*		No	ClinGen 1000Genomes ExAC gnomAD
rs779391122 CA685007	179	L>F		No	ClinGen ExAC gnomAD
rs373125988 CA685008	180	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA339026436 rs1400129340	180	R>H		No	ClinGen TOPMed gnomAD
CA685009 rs772020023	181	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA685010 rs1327926101	181	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA339026461 rs1333422635	182	H>Y	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA19314448 rs958681755	183	E>D		No	ClinGen TOPMed gnomAD
CA339026472 rs1416333881	183	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA339026517 rs1570615268	184	V>G		No	ClinGen Ensembl
rs760764748 CA685013	186	I>V		No	ClinGen ExAC TOPMed gnomAD
CA685014 rs769001180	188	N>S		No	ClinGen ExAC gnomAD
rs377557353 CA685016	190	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs15778 CA339026680	191	A>P		No	ClinGen gnomAD
CA19314475 rs15778	191	A>S		No	ClinGen gnomAD
CA339026826 rs1216108450	195	P>R		No	ClinGen TOPMed
CA19314480 rs963259088	196	A>P		No	ClinGen Ensembl
rs751419466 CA685018	199	R>K		No	ClinGen ExAC gnomAD
rs1024316788 CA19314506	200	V>D		No	ClinGen TOPMed
CA685019 rs374903979	201	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173075828 CA339027013	202	Q>*		No	ClinGen gnomAD
CA339027029 rs1557469059	202	Q>R		No	ClinGen Ensembl
rs752256854 CA685022	203	V>F		No	ClinGen ExAC TOPMed gnomAD
CA19314552 rs909806132	204	T>I		No	ClinGen TOPMed gnomAD
CA685024 rs755709753	205	P>L		No	ClinGen ExAC gnomAD
CA685023 rs755709753	205	P>R		No	ClinGen ExAC gnomAD
rs753556596 CA685025	206	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA685028 rs746309068 COSM1198388	208	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA685030 rs779928087	211	S>Y		No	ClinGen ExAC gnomAD
CA339027337 rs1231823742	212	S>Q		No	ClinGen gnomAD

No associated diseases with Q9GZP4

1 regional properties for Q9GZP4

Type	Name	Position	InterPro Accession
domain	PITH domain	20 - 192	IPR010400

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
sperm cytoplasmic droplet	A small amount of cytoplasm surrounded by a cell membrane that is generally retained in spermatozoa after spermiogenesis, when the majority of the cytoplasm is phagocytosed by Sertoli cells to produce what are called residual bodies. Initially, the droplet is located at the neck just behind the head of an elongated spermatid. During epididymal transit, the cytoplasmic droplet migrates caudally to the annulus at the end of the midpiece; the exact position and time varies by species. The cytoplasmic droplet consists of lipids, lipoproteins, RNAs, a variety of hydrolytic enzymes, receptors, ion channels, and Golgi-derived vesicles. The droplet may be involved in regulatory volume loss (RVD) at ejaculation, and in most species, though not in humans, the cytoplasmic droplet is lost at ejaculation. Note that the cytoplasmic droplet is distinct from 'excessive residual cytoplasm' that sometimes remains in epididymal spermatozoa, particularly when spermiogenesis has been disrupted.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

6 GO annotations of biological process

Name	Definition
penetration of cumulus oophorus	The infiltration by sperm of the cumulus oophorus to reach the oocyte. The process involves digestive enzymes from a modified lysosome called the acrosome, situated at the head of the sperm.
penetration of zona pellucida	The infiltration by sperm of the zona pellucida to reach the oocyte. The process involves digestive enzymes from a modified lysosome called the acrosome, situated at the head of the sperm.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of megakaryocyte differentiation	Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation.
regulation of proteasomal protein catabolic process	Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds that is mediated by the proteasome.
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BWR2	Pithd1	PITH domain-containing protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSHGHSHGGG	GCRCAAEREE	PPEQRGLAYG	LYLRIDLERL	QCLNESREGS	GRGVFKPWEE
70	80	90	100	110	120
RTDRSKFVES	DADEELLFNI	PFTGNVKLKG	IIIMGEDDDS	HPSEMRLYKN	IPQMSFDDTE
130	140	150	160	170	180
REPDQTFSLN	RDLTGELEYA	TKISRFSNVY	HLSIHISKNF	GADTTKVFYI	GLRGEWTELR
190	200	210
RHEVTICNYE	ASANPADHRV	HQVTPQTHFI	S