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Protein

Protein FAM65B

Gene

FAM65B

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

Functioni

Required for hearing (PubMed:24958875). Involved in skeletal muscle development (PubMed:24687993).2 Publications
Isoform 2: Plays a role in promoting myogenic cell differentiation, cytoskeletal rearrangement and filopodia formation (PubMed:17150207).1 Publication

GO - Biological processi

  • sensory perception of sound Source: UniProtKB
  • skeletal muscle fiber development Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Hearing, Myogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM65B
Gene namesi
Name:FAM65B
Synonyms:C6orf32, DIFF48, KIAA0386, PL48
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:13872. FAM65B.

Subcellular locationi

Isoform 1 :
Isoform 2 :

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • cytoplasm Source: UniProtKB
  • cytoskeleton Source: UniProtKB-SubCell
  • filopodium Source: UniProtKB-SubCell
  • mitochondrion Source: UniProtKB-SubCell
  • stereocilium membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 104 (DFNB104)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:616515

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

MalaCardsiFAM65B.
MIMi616515. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA162387677.

Polymorphism and mutation databases

BioMutaiFAM65B.
DMDMi296439477.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10681068Protein FAM65BPRO_0000289114Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei21 – 211PhosphoserineBy similarity
Modified residuei341 – 3411PhosphoserineBy similarity
Modified residuei573 – 5731PhosphoserineBy similarity

Post-translational modificationi

Asn-41 was reported to be N-glycosylated; however as this position is probably not extracellular, the in vivo relevance is not proven (PubMed:16335952). Acetylated during myogenic differentiation (PubMed:24687993).2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y4F9.
MaxQBiQ9Y4F9.
PaxDbiQ9Y4F9.
PeptideAtlasiQ9Y4F9.
PRIDEiQ9Y4F9.

PTM databases

iPTMnetiQ9Y4F9.
PhosphoSiteiQ9Y4F9.

Expressioni

Tissue specificityi

Expressed in muscle. Isoform 1 is present in the brain. Isoform 2 is expressed during differentiation of fetal primary myoblasts. Also shows marked expression during cytotrophoblast differentiation.3 Publications

Gene expression databases

BgeeiQ9Y4F9.
CleanExiHS_FAM65B.
ExpressionAtlasiQ9Y4F9. baseline and differential.
GenevisibleiQ9Y4F9. HS.

Organism-specific databases

HPAiHPA031245.

Interactioni

Subunit structurei

Interacts with HDAC6 and DYSF during myogenic cell differentiation (PubMed:24687993). Interacts with MYOF (PubMed:24687993).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
RHOAP615864EBI-2798942,EBI-446668
RHOCP081345EBI-2798942,EBI-747589

Protein-protein interaction databases

BioGridi115098. 9 interactions.
IntActiQ9Y4F9. 10 interactions.
STRINGi9606.ENSP00000259698.

Structurei

3D structure databases

ProteinModelPortaliQ9Y4F9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni55 – 11359Involved in cell filopodia formationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili83 – 11230Sequence analysisAdd
BLAST
Coiled coili768 – 79326Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the FAM65 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IEN6. Eukaryota.
ENOG410XR7R. LUCA.
GeneTreeiENSGT00490000043360.
HOGENOMiHOG000112476.
HOVERGENiHBG053834.
InParanoidiQ9Y4F9.
OMAiQYKEFQD.
OrthoDBiEOG7RBZ7M.
PhylomeDBiQ9Y4F9.
TreeFamiTF329332.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR026136. FAM65.
IPR031780. FAM65_N.
IPR033035. FAM65B.
[Graphical view]
PANTHERiPTHR15829. PTHR15829. 1 hit.
PTHR15829:SF2. PTHR15829:SF2. 1 hit.
PfamiPF15903. PL48. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9Y4F9-1) [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
MLVGSQSFSP GGPNGIIRSQ SFAGFSGLQE RRSRCNSFIE NSSALKKPQA
60 70 80 90 100
KLKKMHNLGH KNNNPPKEPQ PKRVEEVYRA LKNGLDEYLE VHQTELDKLT
110 120 130 140 150
AQLKDMKRNS RLGVLYDLDK QIKTIERYMR RLEFHISKVD ELYEAYCIQR
160 170 180 190 200
RLQDGASKMK QAFATSPASK AARESLTEIN RSFKEYTENM CTIEVELENL
210 220 230 240 250
LGEFSIKMKG LAGFARLCPG DQYEIFMKYG RQRWKLKGKI EVNGKQSWDG
260 270 280 290 300
EETVFLPLIV GFISIKVTEL KGLATHILVG SVTCETKELF AARPQVVAVD
310 320 330 340 350
INDLGTIKLN LEITWYPFDV EDMTASSGAG NKAAALQRRM SMYSQGTPET
360 370 380 390 400
PTFKDHSFFR WLHPSPDKPR RLSVLSALQD TFFAKLHRSR SFSDLPSLRP
410 420 430 440 450
SPKAVLELYS NLPDDIFENG KAAEEKMPLS LSFSDLPNGD CALTSHSTGS
460 470 480 490 500
PSNSTNPEIT ITPAEFNLSS LASQNEGMDD TSSASSRNSL GEGQEPKSHL
510 520 530 540 550
KEEDPEEPRK PASAPSEACR RQSSGAGAEH LFLENDVAEA LLQESEEASE
560 570 580 590 600
LKPVELDTSE GNITKQLVKR LTSAEVPMAT DRLLSEGSVG GESEGCRSFL
610 620 630 640 650
DGSLEDAFNG LLLALEPHKE QYKEFQDLNQ EVMNLDDILK CKPAVSRSRS
660 670 680 690 700
SSLSLTVESA LESFDFLNTS DFDEEEDGDE VCNVGGGADS VFSDTETEKH
710 720 730 740 750
SYRSVHPEAR GHLSEALTED TGVGTSVAGS PLPLTTGNES LDITIVRHLQ
760 770 780 790 800
YCTQLVQQIV FSSKTPFVAR SLLEKLSRQI QVMEKLAAVS DENIGNISSV
810 820 830 840 850
VEAIPEFHKK LSLLSFWTKC CSPVGVYHSP ADRVMKQLEA SFARTVNKEY
860 870 880 890 900
PGLADPVFRT LVSQILDRAE PLLSSSLSSE VVTVFQYYSY FTSHGVSDLE
910 920 930 940 950
SYLSQLARQV SMVQTLQSLR DEKLLQTMSD LAPSNLLAQQ EVLRTLALLL
960 970 980 990 1000
TREDNEVSEA VTLYLAAASK NQHFREKALL YYCEALTKTN LQLQKAACLA
1010 1020 1030 1040 1050
LKILEATESI KMLVTLCQSD TEEIRNVASE TLLSLGEDGR LAYEQLDKFP
1060
RDCVKVGGRH GTEVATAF
Length:1,068
Mass (Da):118,519
Last modified:May 18, 2010 - v4
Checksum:iCCA7DEB3A66F36AA
GO
Isoform 2 (identifier: Q9Y4F9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     360-409: Missing.
     641-641: C → K
     642-1068: Missing.

Show »
Length:591
Mass (Da):65,692
Checksum:iAB43802AF3D551EC
GO

Sequence cautioni

The sequence AAC51134.1 differs from that shown. Reason: Frameshift at several positions. Curated
The sequence BAA20840.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti13 – 131P → A in AAC51134 (PubMed:9055809).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti145 – 1451A → G.
Corresponds to variant rs11967003 [ dbSNP | Ensembl ].
VAR_032572
Natural varianti320 – 3201V → M.1 Publication
Corresponds to variant rs35331811 [ dbSNP | Ensembl ].
VAR_032573
Natural varianti424 – 4241E → K.
Corresponds to variant rs34016544 [ dbSNP | Ensembl ].
VAR_032574
Natural varianti452 – 4521S → C.
Corresponds to variant rs34298086 [ dbSNP | Ensembl ].
VAR_032575
Natural varianti495 – 4951E → K.
Corresponds to variant rs35514577 [ dbSNP | Ensembl ].
VAR_032576
Natural varianti520 – 5201R → C.
Corresponds to variant rs35780910 [ dbSNP | Ensembl ].
VAR_032577
Natural varianti868 – 8681R → Q.1 Publication
Corresponds to variant rs9461073 [ dbSNP | Ensembl ].
VAR_062193

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei360 – 40950Missing in isoform 2. 2 PublicationsVSP_025904Add
BLAST
Alternative sequencei641 – 6411C → K in isoform 2. 2 PublicationsVSP_025905
Alternative sequencei642 – 1068427Missing in isoform 2. 2 PublicationsVSP_025906Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49187 mRNA. Translation: AAC51134.1. Frameshift.
AB002384 mRNA. Translation: BAA20840.2. Different initiation.
AL512428, AL078584 Genomic DNA. Translation: CAH73086.2.
AL512428, AL078584 Genomic DNA. Translation: CAH73087.2.
AL078584, AL512428 Genomic DNA. Translation: CAI19934.2.
AL078584, AL512428 Genomic DNA. Translation: CAI19935.2.
CH471087 Genomic DNA. Translation: EAW55470.1.
BC001232 mRNA. Translation: AAH01232.1.
CCDSiCCDS47383.1. [Q9Y4F9-1]
CCDS47384.1. [Q9Y4F9-2]
RefSeqiNP_001273375.1. NM_001286446.1.
NP_001273376.1. NM_001286447.1.
NP_055537.2. NM_014722.3. [Q9Y4F9-1]
NP_056948.2. NM_015864.3. [Q9Y4F9-2]
UniGeneiHs.559459.

Genome annotation databases

EnsembliENST00000259698; ENSP00000259698; ENSG00000111913. [Q9Y4F9-1]
ENST00000378023; ENSP00000367262; ENSG00000111913. [Q9Y4F9-2]
ENST00000613507; ENSP00000482957; ENSG00000111913. [Q9Y4F9-1]
GeneIDi9750.
KEGGihsa:9750.
UCSCiuc003neo.3. human. [Q9Y4F9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49187 mRNA. Translation: AAC51134.1. Frameshift.
AB002384 mRNA. Translation: BAA20840.2. Different initiation.
AL512428, AL078584 Genomic DNA. Translation: CAH73086.2.
AL512428, AL078584 Genomic DNA. Translation: CAH73087.2.
AL078584, AL512428 Genomic DNA. Translation: CAI19934.2.
AL078584, AL512428 Genomic DNA. Translation: CAI19935.2.
CH471087 Genomic DNA. Translation: EAW55470.1.
BC001232 mRNA. Translation: AAH01232.1.
CCDSiCCDS47383.1. [Q9Y4F9-1]
CCDS47384.1. [Q9Y4F9-2]
RefSeqiNP_001273375.1. NM_001286446.1.
NP_001273376.1. NM_001286447.1.
NP_055537.2. NM_014722.3. [Q9Y4F9-1]
NP_056948.2. NM_015864.3. [Q9Y4F9-2]
UniGeneiHs.559459.

3D structure databases

ProteinModelPortaliQ9Y4F9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115098. 9 interactions.
IntActiQ9Y4F9. 10 interactions.
STRINGi9606.ENSP00000259698.

PTM databases

iPTMnetiQ9Y4F9.
PhosphoSiteiQ9Y4F9.

Polymorphism and mutation databases

BioMutaiFAM65B.
DMDMi296439477.

Proteomic databases

EPDiQ9Y4F9.
MaxQBiQ9Y4F9.
PaxDbiQ9Y4F9.
PeptideAtlasiQ9Y4F9.
PRIDEiQ9Y4F9.

Protocols and materials databases

DNASUi9750.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259698; ENSP00000259698; ENSG00000111913. [Q9Y4F9-1]
ENST00000378023; ENSP00000367262; ENSG00000111913. [Q9Y4F9-2]
ENST00000613507; ENSP00000482957; ENSG00000111913. [Q9Y4F9-1]
GeneIDi9750.
KEGGihsa:9750.
UCSCiuc003neo.3. human. [Q9Y4F9-1]

Organism-specific databases

CTDi9750.
GeneCardsiFAM65B.
H-InvDBHIX0005630.
HGNCiHGNC:13872. FAM65B.
HPAiHPA031245.
MalaCardsiFAM65B.
MIMi611410. gene.
616515. phenotype.
neXtProtiNX_Q9Y4F9.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA162387677.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEN6. Eukaryota.
ENOG410XR7R. LUCA.
GeneTreeiENSGT00490000043360.
HOGENOMiHOG000112476.
HOVERGENiHBG053834.
InParanoidiQ9Y4F9.
OMAiQYKEFQD.
OrthoDBiEOG7RBZ7M.
PhylomeDBiQ9Y4F9.
TreeFamiTF329332.

Miscellaneous databases

ChiTaRSiFAM65B. human.
GenomeRNAii9750.
PROiQ9Y4F9.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y4F9.
CleanExiHS_FAM65B.
ExpressionAtlasiQ9Y4F9. baseline and differential.
GenevisibleiQ9Y4F9. HS.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR026136. FAM65.
IPR031780. FAM65_N.
IPR033035. FAM65B.
[Graphical view]
PANTHERiPTHR15829. PTHR15829. 1 hit.
PTHR15829:SF2. PTHR15829:SF2. 1 hit.
PfamiPF15903. PL48. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "PL48: a novel gene associated with cytotrophoblast and lineage-specific HL-60 cell differentiation."
    Dakour J., Li H., Morrish D.W.
    Gene 185:153-157(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
    Tissue: Placenta.
  2. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS MET-320 AND GLN-868.
    Tissue: Brain.
  3. Ohara O., Nagase T., Kikuno R., Nomura N.
    Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  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] (ISOFORM 2).
    Tissue: Placenta.
  7. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
    Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
    J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE GLYCOSYLATION [LARGE SCALE ANALYSIS].
    Tissue: Plasma.
  8. "C6ORF32 is upregulated during muscle cell differentiation and induces the formation of cellular filopodia."
    Yoon S., Molloy M.J., Wu M.P., Cowan D.B., Gussoni E.
    Dev. Biol. 301:70-81(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  9. "Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment."
    Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J.
    J. Proteome Res. 7:5167-5176(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: T-cell.
  10. "Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation."
    Balasubramanian A., Kawahara G., Gupta V.A., Rozkalne A., Beauvais A., Kunkel L.M., Gussoni E.
    FASEB J. 28:2955-2969(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY, ACETYLATION, SUBCELLULAR LOCATION, INTERACTION WITH HDAC6; DYSF AND MYOF.
  11. Cited for: FUNCTION, INVOLVEMENT IN DFNB104.

Entry informationi

Entry nameiFA65B_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4F9
Secondary accession number(s): A6NHP2
, Q13529, Q5VV37, Q5VV38, Q9BQ28
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 18, 2010
Last modified: July 6, 2016
This is version 113 of the entry and version 4 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

Miscellaneous

Cells lacking isoform 2 exhibit a severe reduction of myotube formation. In contrast, isoform 2 overexpression induces formation of filopodia.

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

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.