Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q96IP4 (FA46A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein FAM46A
Alternative name(s):
HBV X-transactivated gene 11 protein
HBV XAg-transactivated protein 11
Gene names
Name:FAM46A
Synonyms:C6orf37, XTP11
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length442 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Tissue specificity

Widely expressed, with preferential expression observed in the retina compared to other ocular tissues. Ref.1

Sequence similarities

Belongs to the FAM46 family.

Sequence caution

The sequence AAH00683.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functionpoly(A) RNA binding

Inferred from direct assay PubMed 22658674. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96IP4-1)

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.
Isoform 2 (identifier: Q96IP4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MHQRYFWTDQGQVALGGHYM

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 442442Protein FAM46A
PRO_0000259929

Regions

Repeat24 – 2851
Repeat29 – 3352
Repeat34 – 3853
Repeat39 – 4354

Natural variations

Alternative sequence11M → MHQRYFWTDQGQVALGGHYM in isoform 2.
VSP_035502
Natural variant241G → GGDFGG. Ref.6
VAR_046649
Natural variant39 – 435Missing.
VAR_028978
Natural variant3131T → A. Ref.2 Ref.3
VAR_028979

Experimental info

Sequence conflict471S → T in AAM53071. Ref.1
Sequence conflict1451C → S in AAM53071. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 14, 2008. Version 2.
Checksum: C72092C590C1E369

FASTA44249,666
        10         20         30         40         50         60 
MAEGEGYFAM SEDELACSPY IPLGGDFGGG DFGGGDFGGG DFGGGGSFGG HCLDYCESPT 

        70         80         90        100        110        120 
AHCNVLNWEQ VQRLDGILSE TIPIHGRGNF PTLELQPSLI VKVVRRRLAE KRIGVRDVRL 

       130        140        150        160        170        180 
NGSAASHVLH QDSGLGYKDL DLIFCADLRG EGEFQTVKDV VLDCLLDFLP EGVNKEKITP 

       190        200        210        220        230        240 
LTLKEAYVQK MVKVCNDSDR WSLISLSNNS GKNVELKFVD SLRRQFEFSV DSFQIKLDSL 

       250        260        270        280        290        300 
LLFYECSENP MTETFHPTII GESVYGDFQE AFDHLCNKII ATRNPEEIRG GGLLKYCNLL 

       310        320        330        340        350        360 
VRGFRPASDE IKTLQRYMCS RFFIDFSDIG EQQRKLESYL QNHFVGLEDR KYEYLMTLHG 

       370        380        390        400        410        420 
VVNESTVCLM GHERRQTLNL ITMLAIRVLA DQNVIPNVAN VTCYYQPAPY VADANFSNYY 

       430        440 
IAQVQPVFTC QQQTYSTWLP CN 

« Hide

Isoform 2 [UniParc].

Checksum: 40DEE86DB396F61A
Show »

FASTA46151,943

References

« Hide 'large scale' references
[1]"Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14."
Lagali P.S., Kakuk L.E., Griesinger I.B., Wong P.W., Ayyagari R.
Biochem. Biophys. Res. Commun. 293:356-365(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT 39-GLY--GLY-43 DEL, TISSUE SPECIFICITY.
[2]"Homo sapiens HBV XAg-transactivated protein 11 (XTP11) mRNA."
Liu Y., Li J., Cheng J., Ji D., Gong M., Zhang L., Chen J.
Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLY-ASP-PHE-GLY-GLY-24 INS AND ALA-313.
Tissue: Synovium.
[3]"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. expand/collapse author list , 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 2), VARIANTS GLY-ASP-PHE-GLY-GLY-24 INS AND ALA-313.
Tissue: Colon and Teratocarcinoma.
[4]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORMS 1 AND 2), VARIANT GLY-ASP-PHE-GLY-GLY-24 INS.
Tissue: Eye and Skin.
[7]"Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population."
Cui J., Wang W., Lai M.D., Xu E.P., Lv B.J., Lin J., Ruan W.J., Ma Y., Yao C.
Clin. Chim. Acta 368:155-159(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GLY-ASP-PHE-GLY-GLY-24 INS AND 39-GLY--GLY-43 DEL.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF350451 mRNA. Translation: AAM53071.1.
AY740520 mRNA. Translation: AAW66943.1.
AK000044 mRNA. Translation: BAA90903.1.
AK056057 mRNA. No translation available.
AK292109 mRNA. Translation: BAF84798.1.
AL078599 Genomic DNA. Translation: CAI23544.1.
AL078599 Genomic DNA. Translation: CAI23545.1.
CH471051 Genomic DNA. Translation: EAW48692.1.
BC000683 mRNA. Translation: AAH00683.1. Different initiation.
BC007351 mRNA. Translation: AAH07351.1.
PIRJC7837.
RefSeqNP_060103.2. NM_017633.2.
UniGeneHs.10784.

3D structure databases

ProteinModelPortalQ96IP4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120744. 18 interactions.
IntActQ96IP4. 2 interactions.

PTM databases

PhosphoSiteQ96IP4.

Polymorphism databases

DMDM209572613.

Proteomic databases

PaxDbQ96IP4.
PRIDEQ96IP4.

Protocols and materials databases

DNASU55603.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320172; ENSP00000318298; ENSG00000112773. [Q96IP4-1]
ENST00000369754; ENSP00000358769; ENSG00000112773. [Q96IP4-2]
GeneID55603.
KEGGhsa:55603.
UCSCuc003pjf.3. human. [Q96IP4-2]
uc003pjg.3. human. [Q96IP4-1]

Organism-specific databases

CTD55603.
GeneCardsGC06M082201.
H-InvDBHIX0006030.
HGNCHGNC:18345. FAM46A.
MIM611357. gene.
neXtProtNX_Q96IP4.
PharmGKBPA38531.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG310777.
HOGENOMHOG000234733.
HOVERGENHBG057969.
InParanoidQ96IP4.
PhylomeDBQ96IP4.
TreeFamTF315239.

Gene expression databases

ArrayExpressQ96IP4.
BgeeQ96IP4.
CleanExHS_FAM46A.
GenevestigatorQ96IP4.

Family and domain databases

InterProIPR012937. DUF1693.
[Graphical view]
PfamPF07984. DUF1693. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFAM46A. human.
GeneWikiFAM46A.
GenomeRNAi55603.
NextBio60149.
PROQ96IP4.
SOURCESearch...

Entry information

Entry nameFA46A_HUMAN
AccessionPrimary (citable) accession number: Q96IP4
Secondary accession number(s): A8K7U4 expand/collapse secondary AC list , Q5TF86, Q8NFZ9, Q9BW32, Q9NXV5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: October 14, 2008
Last modified: April 16, 2014
This is version 77 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM