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Protein

Protein FAM189A2

Gene

FAM189A2

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM189A2
Alternative name(s):
Protein X123
Gene namesi
Name:FAM189A2
Synonyms:C9orf61, X123
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:24820. FAM189A2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei86 – 10621HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165585777.

Polymorphism and mutation databases

BioMutaiFAM189A2.
DMDMi215274176.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2929Sequence analysisAdd
BLAST
Chaini30 – 450421Protein FAM189A2PRO_0000089698Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei275 – 2751PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ15884.
PRIDEiQ15884.

PTM databases

iPTMnetiQ15884.
PhosphoSiteiQ15884.

Expressioni

Tissue specificityi

Prominently expressed in muscle.

Gene expression databases

BgeeiQ15884.
CleanExiHS_C9orf61.
ExpressionAtlasiQ15884. baseline and differential.
GenevisibleiQ15884. HS.

Organism-specific databases

HPAiHPA029411.
HPA057207.

Interactioni

Protein-protein interaction databases

BioGridi114808. 78 interactions.
IntActiQ15884. 3 interactions.
STRINGi9606.ENSP00000257515.

Structurei

3D structure databases

ProteinModelPortaliQ15884.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM189 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEGD. Eukaryota.
ENOG41114KM. LUCA.
GeneTreeiENSGT00530000063335.
HOGENOMiHOG000111643.
InParanoidiQ15884.
OMAiCDLVDLG.
OrthoDBiEOG744T96.
PhylomeDBiQ15884.
TreeFamiTF332736.

Family and domain databases

InterProiIPR007237. CD20-like.
IPR030431. FAM189.
[Graphical view]
PANTHERiPTHR17615. PTHR17615. 1 hit.
PfamiPF04103. CD20. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

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

Isoform 3 (identifier: Q15884-3) [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
MILLVNLFVL LSVVCVLLNL AGFILGCQGA QFVSSVPRCD LVDLGEGKIC
60 70 80 90 100
FCCEEFQPAK CTDKENALKL FPVQPCSAVH LLLKKVLFAL CALNALTTTV
110 120 130 140 150
CLVAAALRYL QIFATRRSCI DESQISAEEA EDHGRIPDPD DFVPPVPPPS
160 170 180 190 200
YFATFYSCTP RMNRRMVGPD VIPLPHIYGA RIKGVEVFCP LDPPPPYEAV
210 220 230 240 250
VSQMDQEQGS SFQMSEGSEA AVIPLDLGCT QVTQDGDIPN IPAEENASTS
260 270 280 290 300
TPSSTLVRPI RSRRALPPLR TRSKSDPVLH PSEERAAPVL SCEAATQTER
310 320 330 340 350
RLDLAAVTLR RGLRSRASRC RPRSLIDYKS YMDTKLLVAR FLEQSSCTMT
360 370 380 390 400
PDIHELVENI KSVLKSDEEH MEEAITSASF LEQIMAPLQP STSRAHKLPS
410 420 430 440 450
RRQPGLLHLQ SCGDLHTFTP AGRPRAERRP RRVEAERPHS LIGVIRETVL
Length:450
Mass (Da):49,703
Last modified:November 25, 2008 - v3
Checksum:i6D4066780A6F3EF6
GO
Isoform 1 (identifier: Q15884-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-161: Missing.

Show »
Length:289
Mass (Da):32,120
Checksum:i268B0D1AA69EDA58
GO
Isoform 2 (identifier: Q15884-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-211: Missing.
     212-285: FQMSEGSEAA...DPVLHPSEER → MTCFGPYPIG...MGTCCLFLPT

Show »
Length:239
Mass (Da):27,036
Checksum:iD99FCB13CDF8752E
GO

Sequence cautioni

The sequence AAA61301.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAI15446.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti230 – 2301T → I in BAB71105 (PubMed:14702039).Curated
Sequence conflicti328 – 3281Y → D in AAA61301 (PubMed:7951235).Curated
Sequence conflicti397 – 3971K → R in BAC86453 (PubMed:14702039).Curated
Sequence conflicti400 – 4001S → L in AAA61301 (PubMed:7951235).Curated
Sequence conflicti418 – 4181F → I in AAA61301 (PubMed:7951235).Curated
Sequence conflicti438 – 4381P → S in AAA61301 (PubMed:7951235).Curated
Isoform 2 (identifier: Q15884-2)
Sequence conflicti19 – 191C → CYS in AAA61301 (PubMed:7951235).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti233 – 2331T → I.
Corresponds to variant rs35386391 [ dbSNP | Ensembl ].
VAR_047364
Natural varianti261 – 2611R → K.
Corresponds to variant rs11138396 [ dbSNP | Ensembl ].
VAR_050823

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 211211Missing in isoform 2. 1 PublicationVSP_035736Add
BLAST
Alternative sequencei1 – 161161Missing in isoform 1. 1 PublicationVSP_035737Add
BLAST
Alternative sequencei212 – 28574FQMSE…PSEER → MTCFGPYPIGTGLQGITLCY SCFPSFCKMKSRMCMAISIC QMLSMLSFVVCAFRYRHMFK RGWPMGTCCLFLPT in isoform 2. 1 PublicationVSP_016948Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L27479 mRNA. Translation: AAA61301.1. Different initiation.
AK056152 mRNA. Translation: BAB71105.1.
AK126127 mRNA. Translation: BAC86453.1.
AL355140 Genomic DNA. Translation: CAI15445.2.
AL355140 Genomic DNA. Translation: CAI15446.1. Different initiation.
AL355140 Genomic DNA. Translation: CAI15447.1.
CH471089 Genomic DNA. Translation: EAW62483.1.
BC113683 mRNA. Translation: AAI13684.1.
BC113685 mRNA. Translation: AAI13686.1.
CCDSiCCDS6629.1. [Q15884-3]
PIRiI68673.
RefSeqiNP_001121080.1. NM_001127608.1. [Q15884-3]
NP_004807.3. NM_004816.3. [Q15884-3]
UniGeneiHs.118003.

Genome annotation databases

EnsembliENST00000257515; ENSP00000257515; ENSG00000135063. [Q15884-3]
ENST00000455972; ENSP00000395675; ENSG00000135063. [Q15884-3]
GeneIDi9413.
KEGGihsa:9413.
UCSCiuc004ahg.2. human. [Q15884-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L27479 mRNA. Translation: AAA61301.1. Different initiation.
AK056152 mRNA. Translation: BAB71105.1.
AK126127 mRNA. Translation: BAC86453.1.
AL355140 Genomic DNA. Translation: CAI15445.2.
AL355140 Genomic DNA. Translation: CAI15446.1. Different initiation.
AL355140 Genomic DNA. Translation: CAI15447.1.
CH471089 Genomic DNA. Translation: EAW62483.1.
BC113683 mRNA. Translation: AAI13684.1.
BC113685 mRNA. Translation: AAI13686.1.
CCDSiCCDS6629.1. [Q15884-3]
PIRiI68673.
RefSeqiNP_001121080.1. NM_001127608.1. [Q15884-3]
NP_004807.3. NM_004816.3. [Q15884-3]
UniGeneiHs.118003.

3D structure databases

ProteinModelPortaliQ15884.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114808. 78 interactions.
IntActiQ15884. 3 interactions.
STRINGi9606.ENSP00000257515.

PTM databases

iPTMnetiQ15884.
PhosphoSiteiQ15884.

Polymorphism and mutation databases

BioMutaiFAM189A2.
DMDMi215274176.

Proteomic databases

PaxDbiQ15884.
PRIDEiQ15884.

Protocols and materials databases

DNASUi9413.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000257515; ENSP00000257515; ENSG00000135063. [Q15884-3]
ENST00000455972; ENSP00000395675; ENSG00000135063. [Q15884-3]
GeneIDi9413.
KEGGihsa:9413.
UCSCiuc004ahg.2. human. [Q15884-3]

Organism-specific databases

CTDi9413.
GeneCardsiFAM189A2.
H-InvDBHIX0008084.
HGNCiHGNC:24820. FAM189A2.
HPAiHPA029411.
HPA057207.
MIMi607710. gene.
neXtProtiNX_Q15884.
PharmGKBiPA165585777.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEGD. Eukaryota.
ENOG41114KM. LUCA.
GeneTreeiENSGT00530000063335.
HOGENOMiHOG000111643.
InParanoidiQ15884.
OMAiCDLVDLG.
OrthoDBiEOG744T96.
PhylomeDBiQ15884.
TreeFamiTF332736.

Miscellaneous databases

GenomeRNAii9413.
NextBioi35264.
PROiQ15884.
SOURCEiSearch...

Gene expression databases

BgeeiQ15884.
CleanExiHS_C9orf61.
ExpressionAtlasiQ15884. baseline and differential.
GenevisibleiQ15884. HS.

Family and domain databases

InterProiIPR007237. CD20-like.
IPR030431. FAM189.
[Graphical view]
PANTHERiPTHR17615. PTHR17615. 1 hit.
PfamiPF04103. CD20. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb."
    Duclos F., Rodius F., Wrogemann K., Mandel J.-L., Koenig M.
    Hum. Mol. Genet. 3:909-914(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Brain.
  2. "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] (ISOFORMS 1 AND 3).
    Tissue: Thymus.
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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 3).
  6. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-275, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiF1892_HUMAN
AccessioniPrimary (citable) accession number: Q15884
Secondary accession number(s): Q14CN5
, Q5T6C8, Q5T6C9, Q6ZTX4, Q96N10
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 25, 2008
Last modified: April 13, 2016
This is version 118 of the entry and version 3 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 9
    Human chromosome 9: 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.