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Protein

Membrane-spanning 4-domains subfamily A member 12

Gene

MS4A12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in signal transduction as a component of a multimeric receptor complex.

Keywords - Molecular functioni

Receptor

Names & Taxonomyi

Protein namesi
Recommended name:
Membrane-spanning 4-domains subfamily A member 12
Gene namesi
Name:MS4A12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:13370. MS4A12.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 9191CytoplasmicSequence analysisAdd
BLAST
Transmembranei92 – 11221HelicalSequence analysisAdd
BLAST
Topological domaini113 – 1208ExtracellularSequence analysis
Transmembranei121 – 14121HelicalSequence analysisAdd
BLAST
Topological domaini142 – 16019CytoplasmicSequence analysisAdd
BLAST
Transmembranei161 – 18121HelicalSequence analysisAdd
BLAST
Topological domaini182 – 20019ExtracellularSequence analysisAdd
BLAST
Transmembranei201 – 22121HelicalSequence analysisAdd
BLAST
Topological domaini222 – 26746CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134971353.

Polymorphism and mutation databases

BioMutaiMS4A12.
DMDMi29611831.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 267267Membrane-spanning 4-domains subfamily A member 12PRO_0000158648Add
BLAST

Proteomic databases

PaxDbiQ9NXJ0.
PRIDEiQ9NXJ0.

PTM databases

iPTMnetiQ9NXJ0.
PhosphoSiteiQ9NXJ0.

Expressioni

Gene expression databases

BgeeiQ9NXJ0.
CleanExiHS_MS4A12.
ExpressionAtlasiQ9NXJ0. baseline and differential.
GenevisibleiQ9NXJ0. HS.

Organism-specific databases

HPAiHPA057657.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FAM3AQ9BU273EBI-10227644,EBI-10298603
MALLQ130213EBI-10227644,EBI-750078
PLLPQ9Y3423EBI-10227644,EBI-3919291

Protein-protein interaction databases

BioGridi120210. 3 interactions.
IntActiQ9NXJ0. 3 interactions.
STRINGi9606.ENSP00000016913.

Structurei

3D structure databases

ProteinModelPortaliQ9NXJ0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the MS4A family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IVIZ. Eukaryota.
ENOG41114MR. LUCA.
GeneTreeiENSGT00730000110654.
HOGENOMiHOG000247023.
InParanoidiQ9NXJ0.
OMAiQDYWAVL.
PhylomeDBiQ9NXJ0.
TreeFamiTF335157.

Family and domain databases

InterProiIPR007237. CD20-like.
[Graphical view]
PfamiPF04103. CD20. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9NXJ0-1) [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
MMSSKPTSHA EVNETIPNPY PPSSFMAPGF QQPLGSINLE NQAQGAQRAQ
60 70 80 90 100
PYGITSPGIF ASSQPGQGNI QMINPSVGTA VMNFKEEAKA LGVIQIMVGL
110 120 130 140 150
MHIGFGIVLC LISFSFREVL GFASTAVIGG YPFWGGLSFI ISGSLSVSAS
160 170 180 190 200
KELSRCLVKG SLGMNIVSSI LAFIGVILLL VDMCINGVAG QDYWAVLSGK
210 220 230 240 250
GISATLMIFS LLEFFVACAT AHFANQANTT TNMSVLVIPN MYESNPVTPA
260
SSSAPPRCNN YSANAPK
Length:267
Mass (Da):28,069
Last modified:April 4, 2003 - v2
Checksum:iCDE0BBA77F2F6363
GO
Isoform 2 (identifier: Q9NXJ0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-138: Missing.

Note: No experimental confirmation available.
Show »
Length:221
Mass (Da):23,183
Checksum:i08C8334F93C7B731
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti23 – 231S → G in BAA91020 (PubMed:14702039).Curated
Sequence conflicti202 – 2021I → F in BP262976 (PubMed:16344560).Curated
Sequence conflicti210 – 2101S → L in BP262976 (PubMed:16344560).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101A → D.
Corresponds to variant rs12788393 [ dbSNP | Ensembl ].
VAR_057653

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei93 – 13846Missing in isoform 2. 1 PublicationVSP_044899Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000224 mRNA. Translation: BAA91020.1.
AP001034 Genomic DNA. No translation available.
BC029793 mRNA. Translation: AAH29793.1.
BP262976 mRNA. No translation available.
CCDSiCCDS53638.1. [Q9NXJ0-2]
CCDS7988.1. [Q9NXJ0-1]
RefSeqiNP_001157942.1. NM_001164470.1. [Q9NXJ0-2]
NP_060186.2. NM_017716.2. [Q9NXJ0-1]
XP_011543419.1. XM_011545117.1. [Q9NXJ0-1]
UniGeneiHs.272789.

Genome annotation databases

EnsembliENST00000016913; ENSP00000016913; ENSG00000071203. [Q9NXJ0-1]
ENST00000537076; ENSP00000440424; ENSG00000071203. [Q9NXJ0-2]
GeneIDi54860.
KEGGihsa:54860.
UCSCiuc001npr.4. human. [Q9NXJ0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000224 mRNA. Translation: BAA91020.1.
AP001034 Genomic DNA. No translation available.
BC029793 mRNA. Translation: AAH29793.1.
BP262976 mRNA. No translation available.
CCDSiCCDS53638.1. [Q9NXJ0-2]
CCDS7988.1. [Q9NXJ0-1]
RefSeqiNP_001157942.1. NM_001164470.1. [Q9NXJ0-2]
NP_060186.2. NM_017716.2. [Q9NXJ0-1]
XP_011543419.1. XM_011545117.1. [Q9NXJ0-1]
UniGeneiHs.272789.

3D structure databases

ProteinModelPortaliQ9NXJ0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120210. 3 interactions.
IntActiQ9NXJ0. 3 interactions.
STRINGi9606.ENSP00000016913.

PTM databases

iPTMnetiQ9NXJ0.
PhosphoSiteiQ9NXJ0.

Polymorphism and mutation databases

BioMutaiMS4A12.
DMDMi29611831.

Proteomic databases

PaxDbiQ9NXJ0.
PRIDEiQ9NXJ0.

Protocols and materials databases

DNASUi54860.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000016913; ENSP00000016913; ENSG00000071203. [Q9NXJ0-1]
ENST00000537076; ENSP00000440424; ENSG00000071203. [Q9NXJ0-2]
GeneIDi54860.
KEGGihsa:54860.
UCSCiuc001npr.4. human. [Q9NXJ0-1]

Organism-specific databases

CTDi54860.
GeneCardsiMS4A12.
HGNCiHGNC:13370. MS4A12.
HPAiHPA057657.
MIMi606550. gene.
neXtProtiNX_Q9NXJ0.
PharmGKBiPA134971353.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVIZ. Eukaryota.
ENOG41114MR. LUCA.
GeneTreeiENSGT00730000110654.
HOGENOMiHOG000247023.
InParanoidiQ9NXJ0.
OMAiQDYWAVL.
PhylomeDBiQ9NXJ0.
TreeFamiTF335157.

Miscellaneous databases

GenomeRNAii54860.
PROiQ9NXJ0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NXJ0.
CleanExiHS_MS4A12.
ExpressionAtlasiQ9NXJ0. baseline and differential.
GenevisibleiQ9NXJ0. HS.

Family and domain databases

InterProiIPR007237. CD20-like.
[Graphical view]
PfamiPF04103. CD20. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Colon mucosa.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Colon, Kidney and Stomach.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-219 (ISOFORM 2).
    Tissue: Small intestine.

Entry informationi

Entry nameiM4A12_HUMAN
AccessioniPrimary (citable) accession number: Q9NXJ0
Secondary accession number(s): F5GX98, Q8N6L4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 4, 2003
Last sequence update: April 4, 2003
Last modified: June 8, 2016
This is version 111 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 11
    Human chromosome 11: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.