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Protein

PITH domain-containing protein 1

Gene

PITHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
PITH domain-containing protein 1
Gene namesi
Name:PITHD1
Synonyms:C1orf128
ORF Names:AD039, HT014, PP603
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000057757.9
HGNCiHGNC:25022 PITHD1
neXtProtiNX_Q9GZP4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000057757
PharmGKBiPA142672446

Polymorphism and mutation databases

BioMutaiPITHD1
DMDMi74752536

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002850321 – 211PITH domain-containing protein 1Add BLAST211

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei189PhosphotyrosineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9GZP4
MaxQBiQ9GZP4
PaxDbiQ9GZP4
PeptideAtlasiQ9GZP4
PRIDEiQ9GZP4
ProteomicsDBi80105
80106 [Q9GZP4-2]

2D gel databases

REPRODUCTION-2DPAGEiIPI00015351

PTM databases

iPTMnetiQ9GZP4
PhosphoSitePlusiQ9GZP4

Expressioni

Gene expression databases

BgeeiENSG00000057757
CleanExiHS_C1orf128
ExpressionAtlasiQ9GZP4 baseline and differential
GenevisibleiQ9GZP4 HS

Organism-specific databases

HPAiHPA016936

Interactioni

Protein-protein interaction databases

BioGridi121363, 22 interactors
IntActiQ9GZP4, 1 interactor
STRINGi9606.ENSP00000246151

Structurei

3D structure databases

ProteinModelPortaliQ9GZP4
SMRiQ9GZP4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini20 – 192PITHPROSITE-ProRule annotationAdd BLAST173

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi8 – 11Poly-Gly4

Sequence similaritiesi

Belongs to the PITHD1 family.Curated

Phylogenomic databases

eggNOGiKOG1730 Eukaryota
ENOG411157A LUCA
GeneTreeiENSGT00490000043398
HOVERGENiHBG104505
InParanoidiQ9GZP4
OMAiGVTICNY
OrthoDBiEOG091G0JS5
PhylomeDBiQ9GZP4
TreeFamiTF314669

Family and domain databases

Gene3Di2.60.120.470, 1 hit
InterProiView protein in InterPro
IPR008979 Galactose-bd-like_sf
IPR010400 PITH_dom
IPR037047 PITH_dom_sf
PfamiView protein in Pfam
PF06201 PITH, 1 hit
SUPFAMiSSF49785 SSF49785, 1 hit
PROSITEiView protein in PROSITE
PS51532 PITH, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9GZP4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSHGHSHGGG GCRCAAEREE PPEQRGLAYG LYLRIDLERL QCLNESREGS
60 70 80 90 100
GRGVFKPWEE RTDRSKFVES DADEELLFNI PFTGNVKLKG IIIMGEDDDS
110 120 130 140 150
HPSEMRLYKN IPQMSFDDTE REPDQTFSLN RDLTGELEYA TKISRFSNVY
160 170 180 190 200
HLSIHISKNF GADTTKVFYI GLRGEWTELR RHEVTICNYE ASANPADHRV
210
HQVTPQTHFI S
Length:211
Mass (Da):24,178
Last modified:March 1, 2001 - v1
Checksum:iCFB3B6A0D75685FA
GO
Isoform 2 (identifier: Q9GZP4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-53: Missing.

Show »
Length:210
Mass (Da):24,121
Checksum:iA4405E4BEE78F352
GO

Sequence cautioni

The sequence CAI23142 differs from that shown. Reason: Erroneous gene model prediction.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02480753Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF271784 mRNA Translation: AAG44795.1
AF221595 mRNA Translation: AAF91232.1
AF218024 mRNA Translation: AAG17266.1
AK313005 mRNA Translation: BAG35841.1
AL031295 Genomic DNA Translation: CAI23140.1
AL031295 Genomic DNA Translation: CAI23141.1
AL031295 Genomic DNA Translation: CAI23142.1 Sequence problems.
CH471134 Genomic DNA Translation: EAW95075.1
BC017208 mRNA Translation: AAH17208.1
CCDSiCCDS240.1 [Q9GZP4-1]
RefSeqiNP_065095.2, NM_020362.4 [Q9GZP4-1]
UniGeneiHs.31819

Genome annotation databases

EnsembliENST00000246151; ENSP00000246151; ENSG00000057757 [Q9GZP4-1]
GeneIDi57095
KEGGihsa:57095
UCSCiuc001bhq.4 human [Q9GZP4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPITH1_HUMAN
AccessioniPrimary (citable) accession number: Q9GZP4
Secondary accession number(s): B2R7J4
, Q5QPN6, Q5QPN7, Q9NRI8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: March 1, 2001
Last modified: June 20, 2018
This is version 122 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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