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Protein

Deleted in autism protein 1

Gene

C3orf58

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade.1 Publication

GO - Biological processi

  • cardiac muscle cell proliferation Source: UniProtKB
  • regulation of phosphatidylinositol 3-kinase signaling Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000181744-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Deleted in autism protein 1
Alternative name(s):
Golgi Protein of 49 kDa
Short name:
GoPro49
Hypoxia and AKT-induced stem cell factor
Short name:
HASF
Gene namesi
Name:C3orf58
Synonyms:DIA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:28490. C3orf58.

Subcellular locationi

GO - Cellular componenti

  • COPI vesicle coat Source: MGI
  • extracellular space Source: UniProtKB
  • Golgi membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Golgi apparatus, Secreted

Pathology & Biotechi

Involvement in diseasei

Genetic variations in C3orf58 may be associated with susceptibility to autism (PubMed:18621663).

Keywords - Diseasei

Autism, Autism spectrum disorder

Organism-specific databases

DisGeNETi205428.
OpenTargetsiENSG00000181744.
PharmGKBiPA143485334.

Polymorphism and mutation databases

BioMutaiC3orf58.
DMDMi74730188.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000022603736 – 430Deleted in autism protein 1Add BLAST395

Proteomic databases

EPDiQ8NDZ4.
MaxQBiQ8NDZ4.
PaxDbiQ8NDZ4.
PeptideAtlasiQ8NDZ4.
PRIDEiQ8NDZ4.

PTM databases

iPTMnetiQ8NDZ4.
PhosphoSitePlusiQ8NDZ4.

Expressioni

Gene expression databases

BgeeiENSG00000181744.
CleanExiHS_C3orf58.
ExpressionAtlasiQ8NDZ4. baseline and differential.
GenevisibleiQ8NDZ4. HS.

Organism-specific databases

HPAiHPA048992.

Interactioni

Protein-protein interaction databases

BioGridi128496. 6 interactors.
STRINGi9606.ENSP00000320081.

Structurei

3D structure databases

ProteinModelPortaliQ8NDZ4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DIA1 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IKM0. Eukaryota.
ENOG410XR52. LUCA.
GeneTreeiENSGT00520000055625.
HOGENOMiHOG000082394.
HOVERGENiHBG058913.
InParanoidiQ8NDZ4.
OMAiSRYATWR.
OrthoDBiEOG091G0AUP.
PhylomeDBiQ8NDZ4.
TreeFamiTF313319.

Family and domain databases

InterProiIPR022049. FAM69_kinase_dom.
IPR020519. UPF0672.
[Graphical view]
PfamiPF12260. PIP49_C. 1 hit.
[Graphical view]
ProDomiPD307452. UPF0672. 1 hit.
[Graphical view] [Entries sharing at least one domain]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q8NDZ4-1) [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
MWRLVPPKLG RLSRSLKLAA LGSLLVLMVL HSPSLLASWQ RNELTDRRFL
60 70 80 90 100
QLNKCPACFG TSWCRRFLNG QVVFEAWGRL RLLDFLNVKN VYFAQYGEPR
110 120 130 140 150
EGGRRRVVLK RLGSQRELAQ LDQSICKRAT GRPRCDLLQA MPRTEFARLN
160 170 180 190 200
GDVRLLTPEA VEGWSDLVHC PSQRLLDRLV RRYAETKDSG SFLLRNLKDS
210 220 230 240 250
ERMQLLLTLA FNPEPLVLQS FPSDEGWPFA KYLGACGRMV AVNYVGEELW
260 270 280 290 300
SYFNAPWEKR VDLAWQLMEI AEQLTNNDFE FALYLLDVSF DNFAVGPRDG
310 320 330 340 350
KVIIVDAENV LVADKRLIRQ NKPENWDVWY ESKFDDCDKE ACLSFSKEIL
360 370 380 390 400
CARATVDHNY YAVCQNLLSR HATWRGTSGG LLHDPPSEIA KDGRLEALLD
410 420 430
ECANPKKRYG RFQAAKELRE YLAQLSNNVR
Length:430
Mass (Da):49,482
Last modified:October 1, 2002 - v1
Checksum:iEB72CACF14E71457
GO
Isoform 2 (identifier: Q8NDZ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MWRLVPPKLG → MKSENGTVVG
     11-219: Missing.

Note: No experimental confirmation available.
Show »
Length:221
Mass (Da):25,230
Checksum:iFE51779A0E522857
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0429391 – 10MWRLVPPKLG → MKSENGTVVG in isoform 2. 1 Publication10
Alternative sequenceiVSP_04294011 – 219Missing in isoform 2. 1 PublicationAdd BLAST209

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK294020 mRNA. Translation: BAH11649.1.
AK315082 mRNA. Translation: BAG37549.1.
AC117379 Genomic DNA. No translation available.
AC117387 Genomic DNA. No translation available.
BC037293 mRNA. Translation: AAH37293.1.
CCDSiCCDS3130.1. [Q8NDZ4-1]
CCDS46929.1. [Q8NDZ4-2]
RefSeqiNP_001127942.1. NM_001134470.1. [Q8NDZ4-2]
NP_775823.1. NM_173552.3. [Q8NDZ4-1]
UniGeneiHs.288954.

Genome annotation databases

EnsembliENST00000315691; ENSP00000320081; ENSG00000181744. [Q8NDZ4-1]
ENST00000495414; ENSP00000417382; ENSG00000181744. [Q8NDZ4-2]
GeneIDi205428.
KEGGihsa:205428.
UCSCiuc003evo.4. human. [Q8NDZ4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK294020 mRNA. Translation: BAH11649.1.
AK315082 mRNA. Translation: BAG37549.1.
AC117379 Genomic DNA. No translation available.
AC117387 Genomic DNA. No translation available.
BC037293 mRNA. Translation: AAH37293.1.
CCDSiCCDS3130.1. [Q8NDZ4-1]
CCDS46929.1. [Q8NDZ4-2]
RefSeqiNP_001127942.1. NM_001134470.1. [Q8NDZ4-2]
NP_775823.1. NM_173552.3. [Q8NDZ4-1]
UniGeneiHs.288954.

3D structure databases

ProteinModelPortaliQ8NDZ4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128496. 6 interactors.
STRINGi9606.ENSP00000320081.

PTM databases

iPTMnetiQ8NDZ4.
PhosphoSitePlusiQ8NDZ4.

Polymorphism and mutation databases

BioMutaiC3orf58.
DMDMi74730188.

Proteomic databases

EPDiQ8NDZ4.
MaxQBiQ8NDZ4.
PaxDbiQ8NDZ4.
PeptideAtlasiQ8NDZ4.
PRIDEiQ8NDZ4.

Protocols and materials databases

DNASUi205428.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000315691; ENSP00000320081; ENSG00000181744. [Q8NDZ4-1]
ENST00000495414; ENSP00000417382; ENSG00000181744. [Q8NDZ4-2]
GeneIDi205428.
KEGGihsa:205428.
UCSCiuc003evo.4. human. [Q8NDZ4-1]

Organism-specific databases

CTDi205428.
DisGeNETi205428.
GeneCardsiC3orf58.
HGNCiHGNC:28490. C3orf58.
HPAiHPA048992.
MIMi612200. gene.
neXtProtiNX_Q8NDZ4.
OpenTargetsiENSG00000181744.
PharmGKBiPA143485334.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKM0. Eukaryota.
ENOG410XR52. LUCA.
GeneTreeiENSGT00520000055625.
HOGENOMiHOG000082394.
HOVERGENiHBG058913.
InParanoidiQ8NDZ4.
OMAiSRYATWR.
OrthoDBiEOG091G0AUP.
PhylomeDBiQ8NDZ4.
TreeFamiTF313319.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000181744-MONOMER.

Miscellaneous databases

ChiTaRSiC3orf58. human.
GenomeRNAii205428.
PROiQ8NDZ4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181744.
CleanExiHS_C3orf58.
ExpressionAtlasiQ8NDZ4. baseline and differential.
GenevisibleiQ8NDZ4. HS.

Family and domain databases

InterProiIPR022049. FAM69_kinase_dom.
IPR020519. UPF0672.
[Graphical view]
PfamiPF12260. PIP49_C. 1 hit.
[Graphical view]
ProDomiPD307452. UPF0672. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetiSearch...

Entry informationi

Entry nameiDIA1_HUMAN
AccessioniPrimary (citable) accession number: Q8NDZ4
Secondary accession number(s): B2RCF2, B7Z1W3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 94 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.