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Protein

Protein FAM118A

Gene

FAM118A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM118A
Gene namesi
Name:FAM118A
Synonyms:C22orf8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:1313. FAM118A.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei30 – 5021HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25890.

Polymorphism and mutation databases

BioMutaiFAM118A.
DMDMi296434496.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 357357Protein FAM118APRO_0000079572Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineCombined sources
Modified residuei311 – 3111PhosphoserineCombined sources

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9NWS6.
MaxQBiQ9NWS6.
PaxDbiQ9NWS6.
PeptideAtlasiQ9NWS6.
PRIDEiQ9NWS6.

PTM databases

iPTMnetiQ9NWS6.
PhosphoSiteiQ9NWS6.

Expressioni

Gene expression databases

BgeeiENSG00000100376.
CleanExiHS_FAM118A.
ExpressionAtlasiQ9NWS6. baseline and differential.
GenevisibleiQ9NWS6. HS.

Organism-specific databases

HPAiHPA003902.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
AIDAQ96BJ33EBI-8638992,EBI-4401674
ATOX1O002443EBI-8638992,EBI-10179267
FAM118BQ9BPY33EBI-8638992,EBI-726822
GLRX3O760033EBI-8638992,EBI-374781
LNX1Q8TBB13EBI-8638992,EBI-739832
MOB1AQ9H8S93EBI-8638992,EBI-748229
MOB3CQ70IA83EBI-8638992,EBI-9679267
SDCBPO005603EBI-8638992,EBI-727004
WDR4P570813EBI-8638992,EBI-750427

Protein-protein interaction databases

BioGridi120339. 13 interactions.
IntActiQ9NWS6. 10 interactions.
STRINGi9606.ENSP00000216214.

Structurei

3D structure databases

ProteinModelPortaliQ9NWS6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM118 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHIR. Eukaryota.
ENOG410YDRZ. LUCA.
GeneTreeiENSGT00390000010215.
HOGENOMiHOG000072713.
HOVERGENiHBG055230.
InParanoidiQ9NWS6.
OMAiMDRGTMV.
OrthoDBiEOG091G0ABT.
PhylomeDBiQ9NWS6.
TreeFamiTF332439.

Family and domain databases

InterProiIPR033353. FAM118A.
[Graphical view]
PANTHERiPTHR28623:SF2. PTHR28623:SF2. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9NWS6-1) [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
MDSVEKTTNR SEQKSRKFLK SLIRKQPQEL LLVIGTGVSA AVAPGIPALC
60 70 80 90 100
SWRSCIEAVI EAAEQLEVLH PGDVAEFRRK VTKDRDLLVV AHDLIRKMSP
110 120 130 140 150
RTGDAKPSFF QDCLMEVFDD LEQHIRSPVV LQSILSLMDR GAMVLTTNYD
160 170 180 190 200
NLLEAFGRRQ NKPMESLDLK DKTKVLEWAR GHMKYGVLHI HGLYTDPCGV
210 220 230 240 250
VLDPSGYKDV TQDAEVMEVL QNLYRTKSFL FVGCGETLRD QIFQALFLYS
260 270 280 290 300
VPNKVDLEHY MLVLKENEDH FFKHQADMLL HGIKVVSYGD CFDHFPGYVQ
310 320 330 340 350
DLATQICKQQ SPDADRVDST TLLGNACQDC AKRKLEENGI EVSKKRTQSD

TDDAGGS
Length:357
Mass (Da):40,269
Last modified:May 18, 2010 - v2
Checksum:i6BDF8142D3BC1D32
GO
Isoform 2 (identifier: Q9NWS6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-182: Missing.

Note: No experimental confirmation available.
Show »
Length:175
Mass (Da):19,716
Checksum:i2C6542E5A0509A70
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti195 – 1951T → R in AAH13696 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti129 – 1291V → L.3 Publications
Corresponds to variant rs11556482 [ dbSNP | Ensembl ].
VAR_022808
Natural varianti239 – 2391R → H.3 Publications
Corresponds to variant rs6007594 [ dbSNP | Ensembl ].
VAR_022809

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 182182Missing in isoform 2. 1 PublicationVSP_056990Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000642 mRNA. Translation: BAA91301.1.
AK125027 mRNA. Translation: BAG54126.1.
AK302205 mRNA. Translation: BAG63564.1.
CR456403 mRNA. Translation: CAG30289.1.
AL008718 Genomic DNA. Translation: CAI17949.1.
BC013696 mRNA. Translation: AAH13696.1.
CCDSiCCDS14065.1. [Q9NWS6-1]
RefSeqiNP_001098065.1. NM_001104595.1. [Q9NWS6-1]
NP_060381.2. NM_017911.2. [Q9NWS6-1]
UniGeneiHs.265018.

Genome annotation databases

EnsembliENST00000216214; ENSP00000216214; ENSG00000100376. [Q9NWS6-1]
ENST00000441876; ENSP00000395892; ENSG00000100376. [Q9NWS6-1]
GeneIDi55007.
KEGGihsa:55007.
UCSCiuc003bfz.5. human. [Q9NWS6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000642 mRNA. Translation: BAA91301.1.
AK125027 mRNA. Translation: BAG54126.1.
AK302205 mRNA. Translation: BAG63564.1.
CR456403 mRNA. Translation: CAG30289.1.
AL008718 Genomic DNA. Translation: CAI17949.1.
BC013696 mRNA. Translation: AAH13696.1.
CCDSiCCDS14065.1. [Q9NWS6-1]
RefSeqiNP_001098065.1. NM_001104595.1. [Q9NWS6-1]
NP_060381.2. NM_017911.2. [Q9NWS6-1]
UniGeneiHs.265018.

3D structure databases

ProteinModelPortaliQ9NWS6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120339. 13 interactions.
IntActiQ9NWS6. 10 interactions.
STRINGi9606.ENSP00000216214.

PTM databases

iPTMnetiQ9NWS6.
PhosphoSiteiQ9NWS6.

Polymorphism and mutation databases

BioMutaiFAM118A.
DMDMi296434496.

Proteomic databases

EPDiQ9NWS6.
MaxQBiQ9NWS6.
PaxDbiQ9NWS6.
PeptideAtlasiQ9NWS6.
PRIDEiQ9NWS6.

Protocols and materials databases

DNASUi55007.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216214; ENSP00000216214; ENSG00000100376. [Q9NWS6-1]
ENST00000441876; ENSP00000395892; ENSG00000100376. [Q9NWS6-1]
GeneIDi55007.
KEGGihsa:55007.
UCSCiuc003bfz.5. human. [Q9NWS6-1]

Organism-specific databases

CTDi55007.
GeneCardsiFAM118A.
H-InvDBHIX0016577.
HGNCiHGNC:1313. FAM118A.
HPAiHPA003902.
neXtProtiNX_Q9NWS6.
PharmGKBiPA25890.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHIR. Eukaryota.
ENOG410YDRZ. LUCA.
GeneTreeiENSGT00390000010215.
HOGENOMiHOG000072713.
HOVERGENiHBG055230.
InParanoidiQ9NWS6.
OMAiMDRGTMV.
OrthoDBiEOG091G0ABT.
PhylomeDBiQ9NWS6.
TreeFamiTF332439.

Miscellaneous databases

ChiTaRSiFAM118A. human.
GenomeRNAii55007.
PROiQ9NWS6.

Gene expression databases

BgeeiENSG00000100376.
CleanExiHS_FAM118A.
ExpressionAtlasiQ9NWS6. baseline and differential.
GenevisibleiQ9NWS6. HS.

Family and domain databases

InterProiIPR033353. FAM118A.
[Graphical view]
PANTHERiPTHR28623:SF2. PTHR28623:SF2. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiF118A_HUMAN
AccessioniPrimary (citable) accession number: Q9NWS6
Secondary accession number(s): B3KWG4
, B4DY02, Q5TII5, Q96CY3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: May 18, 2010
Last modified: September 7, 2016
This is version 100 of the entry and version 2 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 22
    Human chromosome 22: 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
  4. SIMILARITY comments
    Index of protein domains and families

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.