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Q96IP4

- FA46A_HUMAN

UniProt

Q96IP4 - FA46A_HUMAN

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Protein

Protein FAM46A

Gene

FAM46A

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

Functioni

GO - Molecular functioni

  1. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. regulation of blood coagulation Source: UniProt
  2. regulation of gene expression Source: UniProt
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM46A
Alternative name(s):
HBV X-transactivated gene 11 protein
HBV XAg-transactivated protein 11
Gene namesi
Name:FAM46A
Synonyms:C6orf37, XTP11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:18345. FAM46A.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38531.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 442442Protein FAM46APRO_0000259929Add
BLAST

Proteomic databases

MaxQBiQ96IP4.
PaxDbiQ96IP4.
PRIDEiQ96IP4.

PTM databases

PhosphoSiteiQ96IP4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ96IP4.
CleanExiHS_FAM46A.
ExpressionAtlasiQ96IP4. baseline and differential.
GenevestigatoriQ96IP4.

Interactioni

Protein-protein interaction databases

BioGridi120744. 18 interactions.
IntActiQ96IP4. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ96IP4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati24 – 2851
Repeati29 – 3352
Repeati34 – 3853
Repeati39 – 4354

Sequence similaritiesi

Belongs to the FAM46 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG310777.
GeneTreeiENSGT00500000044785.
HOGENOMiHOG000234733.
HOVERGENiHBG057969.
InParanoidiQ96IP4.
PhylomeDBiQ96IP4.
TreeFamiTF315239.

Family and domain databases

InterProiIPR012937. DUF1693.
[Graphical view]
PfamiPF07984. DUF1693. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96IP4-1) [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
MAEGEGYFAM SEDELACSPY IPLGGDFGGG DFGGGDFGGG DFGGGGSFGG
60 70 80 90 100
HCLDYCESPT AHCNVLNWEQ VQRLDGILSE TIPIHGRGNF PTLELQPSLI
110 120 130 140 150
VKVVRRRLAE KRIGVRDVRL NGSAASHVLH QDSGLGYKDL DLIFCADLRG
160 170 180 190 200
EGEFQTVKDV VLDCLLDFLP EGVNKEKITP LTLKEAYVQK MVKVCNDSDR
210 220 230 240 250
WSLISLSNNS GKNVELKFVD SLRRQFEFSV DSFQIKLDSL LLFYECSENP
260 270 280 290 300
MTETFHPTII GESVYGDFQE AFDHLCNKII ATRNPEEIRG GGLLKYCNLL
310 320 330 340 350
VRGFRPASDE IKTLQRYMCS RFFIDFSDIG EQQRKLESYL QNHFVGLEDR
360 370 380 390 400
KYEYLMTLHG VVNESTVCLM GHERRQTLNL ITMLAIRVLA DQNVIPNVAN
410 420 430 440
VTCYYQPAPY VADANFSNYY IAQVQPVFTC QQQTYSTWLP CN
Length:442
Mass (Da):49,666
Last modified:October 14, 2008 - v2
Checksum:iC72092C590C1E369
GO
Isoform 2 (identifier: Q96IP4-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:461
Mass (Da):51,943
Checksum:i40DEE86DB396F61A
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti47 – 471S → T in AAM53071. (PubMed:12054608)Curated
Sequence conflicti145 – 1451C → S in AAM53071. (PubMed:12054608)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241G → GGDFGG.1 Publication
VAR_046649
Natural varianti39 – 435Missing.2 Publications
VAR_028978
Natural varianti313 – 3131T → A.2 Publications
VAR_028979

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MHQRYFWTDQGQVALGGHYM in isoform 2. 2 PublicationsVSP_035502

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS34489.1. [Q96IP4-1]
PIRiJC7837.
RefSeqiNP_060103.2. NM_017633.2. [Q96IP4-1]
UniGeneiHs.10784.

Genome annotation databases

EnsembliENST00000320172; ENSP00000318298; ENSG00000112773. [Q96IP4-1]
ENST00000369754; ENSP00000358769; ENSG00000112773. [Q96IP4-2]
GeneIDi55603.
KEGGihsa:55603.
UCSCiuc003pjf.3. human. [Q96IP4-2]
uc003pjg.3. human. [Q96IP4-1]

Polymorphism databases

DMDMi209572613.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS34489.1. [Q96IP4-1 ]
PIRi JC7837.
RefSeqi NP_060103.2. NM_017633.2. [Q96IP4-1 ]
UniGenei Hs.10784.

3D structure databases

ProteinModelPortali Q96IP4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120744. 18 interactions.
IntActi Q96IP4. 2 interactions.

PTM databases

PhosphoSitei Q96IP4.

Polymorphism databases

DMDMi 209572613.

Proteomic databases

MaxQBi Q96IP4.
PaxDbi Q96IP4.
PRIDEi Q96IP4.

Protocols and materials databases

DNASUi 55603.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000320172 ; ENSP00000318298 ; ENSG00000112773 . [Q96IP4-1 ]
ENST00000369754 ; ENSP00000358769 ; ENSG00000112773 . [Q96IP4-2 ]
GeneIDi 55603.
KEGGi hsa:55603.
UCSCi uc003pjf.3. human. [Q96IP4-2 ]
uc003pjg.3. human. [Q96IP4-1 ]

Organism-specific databases

CTDi 55603.
GeneCardsi GC06M082201.
H-InvDB HIX0006030.
HGNCi HGNC:18345. FAM46A.
MIMi 611357. gene.
neXtProti NX_Q96IP4.
PharmGKBi PA38531.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG310777.
GeneTreei ENSGT00500000044785.
HOGENOMi HOG000234733.
HOVERGENi HBG057969.
InParanoidi Q96IP4.
PhylomeDBi Q96IP4.
TreeFami TF315239.

Miscellaneous databases

ChiTaRSi FAM46A. human.
GeneWikii FAM46A.
GenomeRNAii 55603.
NextBioi 60149.
PROi Q96IP4.
SOURCEi Search...

Gene expression databases

Bgeei Q96IP4.
CleanExi HS_FAM46A.
ExpressionAtlasi Q96IP4. baseline and differential.
Genevestigatori Q96IP4.

Family and domain databases

InterProi IPR012937. DUF1693.
[Graphical view ]
Pfami PF07984. DUF1693. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiFA46A_HUMAN
AccessioniPrimary (citable) accession number: Q96IP4
Secondary accession number(s): A8K7U4
, Q5TF86, Q8NFZ9, Q9BW32, Q9NXV5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: October 14, 2008
Last modified: October 29, 2014
This is version 81 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 6
    Human chromosome 6: 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

External Data

Dasty 3