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Protein

Uncharacterized protein C2orf54

Gene

C2orf54

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

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C2orf54
Gene namesi
Name:C2orf54
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000172478.17
HGNCiHGNC:26216 C2orf54
neXtProtiNX_Q08AI8

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000172478
PharmGKBiPA162379226

Polymorphism and mutation databases

DMDMi158564111

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002884491 – 447Uncharacterized protein C2orf54Add BLAST447

Proteomic databases

EPDiQ08AI8
MaxQBiQ08AI8
PaxDbiQ08AI8
PeptideAtlasiQ08AI8
PRIDEiQ08AI8
ProteomicsDBi58675
58676 [Q08AI8-2]
58677 [Q08AI8-3]

PTM databases

iPTMnetiQ08AI8
PhosphoSitePlusiQ08AI8

Expressioni

Gene expression databases

BgeeiENSG00000172478 Expressed in 143 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_C2orf54
ExpressionAtlasiQ08AI8 baseline and differential
GenevisibleiQ08AI8 HS

Organism-specific databases

HPAiHPA052722

Interactioni

Protein-protein interaction databases

BioGridi122997, 2 interactors
STRINGi9606.ENSP00000373586

Structurei

3D structure databases

ProteinModelPortaliQ08AI8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IEX3 Eukaryota
ENOG410YC9H LUCA
GeneTreeiENSGT00510000046791
HOGENOMiHOG000054221
HOVERGENiHBG095701
InParanoidiQ08AI8
OMAiWHHYLQA
OrthoDBiEOG091G07FB
PhylomeDBiQ08AI8
TreeFamiTF315012

Family and domain databases

InterProiView protein in InterPro
IPR024809 C2orf54
IPR024810 Mab-21_dom
PANTHERiPTHR10656:SF7 PTHR10656:SF7, 1 hit
PfamiView protein in Pfam
PF03281 Mab-21, 1 hit
SMARTiView protein in SMART
SM01265 Mab-21, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q08AI8-1) [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
MPAPALPTSA MAVQVPLWHH YLQAIRSREA PRAQDFQRAE NVLLTVLERV
60 70 80 90 100
HALDPRFIVD YSRGLEAFQF ALRSSEDPMD MEVPLWVDAE ALLIEEPEAT
110 120 130 140 150
QPEDGLELCH LGVPREGAGL ERWTTEDTFT ASSEGDAKCR GHIVPSKVLC
160 170 180 190 200
VLKDLLVAAI VHCKHHSLIA PGSLNAASLR EEQLHLSLLV SSGWRTISFH
210 220 230 240 250
VVPVVRRKLG APALEGVQQM PGFPEGSLRR ILSQGVDLVP ASAQLWRTST
260 270 280 290 300
DYLLTRLLGE LGSLQGHRLD SLSILDRVNH ESWRDSGQTD GLTFGHLKMV
310 320 330 340 350
LLWASVLFLA PEDWAELQGA VYRLLVVLLC CLATRKLPHF LHPQRNLLQG
360 370 380 390 400
SGLDLGAIYQ RVEGFASQPE AALRIHATHL GRSPPPRIGS GLKALLQLPA
410 420 430 440
SDPTYWATAY FDVLLDKFQV FNIQDKDRIS AMQSIFQKTR TLGGEES
Length:447
Mass (Da):49,565
Last modified:May 29, 2007 - v2
Checksum:i5F89B2AB819A6FAE
GO
Isoform 2 (identifier: Q08AI8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-149: Missing.
     150-171: CVLKDLLVAAIVHCKHHSLIAP → MDTGVWGWGAAACRWGPAERAA

Show »
Length:298
Mass (Da):32,863
Checksum:i1F20ABBA609FF496
GO
Isoform 3 (identifier: Q08AI8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-168: Missing.
     169-171: IAP → MDT

Note: No experimental confirmation available.
Show »
Length:279
Mass (Da):30,909
Checksum:i941EE8F6ADE7459F
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JP86C9JP86_HUMAN
Mab-21-like 4
MAB21L4
108Annotation score:
C9JEK0C9JEK0_HUMAN
Mab-21-like 4
MAB21L4
132Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti173S → P in BAB15445 (PubMed:14702039).Curated1
Sequence conflicti317L → P in BAB15445 (PubMed:14702039).Curated1
Isoform 2 (identifier: Q08AI8-2)
Sequence conflicti11A → S in AAI25156 (PubMed:15489334).Curated1
Sequence conflicti21A → P in AAI25155 (PubMed:15489334).Curated1
Sequence conflicti21A → P in AAI25156 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050714170A → T. Corresponds to variant dbSNP:rs4359646Ensembl.1
Natural variantiVAR_032419309L → P2 PublicationsCorresponds to variant dbSNP:rs6707568Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0256791 – 168Missing in isoform 3. 1 PublicationAdd BLAST168
Alternative sequenceiVSP_0256801 – 149Missing in isoform 2. 1 PublicationAdd BLAST149
Alternative sequenceiVSP_025681150 – 171CVLKD…SLIAP → MDTGVWGWGAAACRWGPAER AA in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_025682169 – 171IAP → MDT in isoform 3. 1 Publication3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026324 mRNA Translation: BAB15445.1
AK056601 mRNA Translation: BAG51761.1
AC104809 Genomic DNA Translation: AAY24169.1
BC125154 mRNA Translation: AAI25155.1
BC125155 mRNA Translation: AAI25156.1
CCDSiCCDS42839.1 [Q08AI8-1]
CCDS42840.1 [Q08AI8-3]
CCDS63187.1 [Q08AI8-2]
RefSeqiNP_001078906.2, NM_001085437.2
NP_001269850.1, NM_001282921.1
NP_079137.3, NM_024861.3
XP_011510179.1, XM_011511877.1 [Q08AI8-1]
UniGeneiHs.193745

Genome annotation databases

EnsembliENST00000307486; ENSP00000302779; ENSG00000172478 [Q08AI8-2]
ENST00000388934; ENSP00000373586; ENSG00000172478 [Q08AI8-1]
ENST00000402775; ENSP00000385338; ENSG00000172478 [Q08AI8-3]
GeneIDi79919
KEGGihsa:79919
UCSCiuc002wac.5 human [Q08AI8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026324 mRNA Translation: BAB15445.1
AK056601 mRNA Translation: BAG51761.1
AC104809 Genomic DNA Translation: AAY24169.1
BC125154 mRNA Translation: AAI25155.1
BC125155 mRNA Translation: AAI25156.1
CCDSiCCDS42839.1 [Q08AI8-1]
CCDS42840.1 [Q08AI8-3]
CCDS63187.1 [Q08AI8-2]
RefSeqiNP_001078906.2, NM_001085437.2
NP_001269850.1, NM_001282921.1
NP_079137.3, NM_024861.3
XP_011510179.1, XM_011511877.1 [Q08AI8-1]
UniGeneiHs.193745

3D structure databases

ProteinModelPortaliQ08AI8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122997, 2 interactors
STRINGi9606.ENSP00000373586

PTM databases

iPTMnetiQ08AI8
PhosphoSitePlusiQ08AI8

Polymorphism and mutation databases

DMDMi158564111

Proteomic databases

EPDiQ08AI8
MaxQBiQ08AI8
PaxDbiQ08AI8
PeptideAtlasiQ08AI8
PRIDEiQ08AI8
ProteomicsDBi58675
58676 [Q08AI8-2]
58677 [Q08AI8-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000307486; ENSP00000302779; ENSG00000172478 [Q08AI8-2]
ENST00000388934; ENSP00000373586; ENSG00000172478 [Q08AI8-1]
ENST00000402775; ENSP00000385338; ENSG00000172478 [Q08AI8-3]
GeneIDi79919
KEGGihsa:79919
UCSCiuc002wac.5 human [Q08AI8-1]

Organism-specific databases

CTDi79919
EuPathDBiHostDB:ENSG00000172478.17
GeneCardsiC2orf54
H-InvDBiHIX0002990
HGNCiHGNC:26216 C2orf54
HPAiHPA052722
neXtProtiNX_Q08AI8
OpenTargetsiENSG00000172478
PharmGKBiPA162379226
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEX3 Eukaryota
ENOG410YC9H LUCA
GeneTreeiENSGT00510000046791
HOGENOMiHOG000054221
HOVERGENiHBG095701
InParanoidiQ08AI8
OMAiWHHYLQA
OrthoDBiEOG091G07FB
PhylomeDBiQ08AI8
TreeFamiTF315012

Miscellaneous databases

GenomeRNAii79919
PROiPR:Q08AI8

Gene expression databases

BgeeiENSG00000172478 Expressed in 143 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_C2orf54
ExpressionAtlasiQ08AI8 baseline and differential
GenevisibleiQ08AI8 HS

Family and domain databases

InterProiView protein in InterPro
IPR024809 C2orf54
IPR024810 Mab-21_dom
PANTHERiPTHR10656:SF7 PTHR10656:SF7, 1 hit
PfamiView protein in Pfam
PF03281 Mab-21, 1 hit
SMARTiView protein in SMART
SM01265 Mab-21, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCB054_HUMAN
AccessioniPrimary (citable) accession number: Q08AI8
Secondary accession number(s): B3KPP9
, H7BXM3, Q08AI9, Q53QU5, Q9H622
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: September 12, 2018
This is version 88 of the entry and version 2 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

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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