Q8BWR2

PR
Gene name
Pithd1 (Trp26)
Protein name
PITH domain-containing protein 1
Names
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:66193
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-156 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q8BWR2

Entry ID Method Resolution Chain Position Source
AF-Q8BWR2-F1 Predicted AlphaFoldDB

5 variants for Q8BWR2

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3394971171 22 P>H No EVA
rs3388716991 38 E>K No EVA
rs243892384 91 V>I No EVA
rs3394652942 113 Q>* No EVA
rs220758479 124 E>D No EVA

No associated diseases with Q8BWR2

1 regional properties for Q8BWR2

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
Q9GZP4 PITHD1 PITH domain-containing protein 1 Homo sapiens (Human) PR
10 20 30 40 50 60
MSHGHSHGGG GCRCAAEREE PPEQRGLAYG LYLRIDLERL QCLNESREGS GRGVFKPWEE
70 80 90 100 110 120
RTDRSKFVES DADEELLFNI PFTGNVKLKG VIIMGEDDDS HPSEMRLYKN IPQMSFDDTE
130 140 150 160 170 180
REPEQTFSLN RDITGELEYA TKISRFSNVY HLSIHISKNF GADTTKIFYI GLRGEWTELR
190 200 210
RHEVTICNYE ASANPADHRV HQVTPQTHFI S