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Q8TC84 (FANK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 95. 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:
Fibronectin type 3 and ankyrin repeat domains protein 1
Gene names
Name:FANK1
ORF Names:HSD13, UNQ6504/PRO21382
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length345 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Nucleus. Cytoplasm By similarity.

Tissue specificity

Mostly restricted to testis. Ref.4

Sequence similarities

Contains 6 ANK repeats.

Contains 1 fibronectin type-III domain.

Ontologies

Keywords
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainANK repeat
Repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from direct assay. Source: HPA

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TC84-1)

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: Q8TC84-2)

The sequence of this isoform differs from the canonical sequence as follows:
     325-345: SVVSLLEERKKKQRPKKSCVC → VGMLFLPIKANF
Isoform 3 (identifier: Q8TC84-3)

The sequence of this isoform differs from the canonical sequence as follows:
     106-106: R → RPSLSKSLVKIRMVTSVLHGPPTENTG
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 345345Fibronectin type 3 and ankyrin repeat domains protein 1
PRO_0000066990

Regions

Domain8 – 108101Fibronectin type-III
Repeat109 – 13931ANK 1
Repeat143 – 17230ANK 2
Repeat176 – 20530ANK 3
Repeat209 – 23830ANK 4
Repeat243 – 27331ANK 5
Repeat277 – 30630ANK 6

Natural variations

Alternative sequence1061R → RPSLSKSLVKIRMVTSVLHG PPTENTG in isoform 3.
VSP_013569
Alternative sequence325 – 34521SVVSL…KSCVC → VGMLFLPIKANF in isoform 2.
VSP_013568
Natural variant121P → L.
Corresponds to variant rs17153879 [ dbSNP | Ensembl ].
VAR_048296
Natural variant461R → S.
Corresponds to variant rs17153882 [ dbSNP | Ensembl ].
VAR_027896
Natural variant3291L → V.
Corresponds to variant rs1666 [ dbSNP | Ensembl ].
VAR_024176
Natural variant3431C → F.
Corresponds to variant rs17153976 [ dbSNP | Ensembl ].
VAR_048297

Experimental info

Sequence conflict51K → R in AAH24189. Ref.2

Sequences

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

Last modified October 17, 2006. Version 3.
Checksum: 47C16DE1ABF814E5

FASTA34538,341
        10         20         30         40         50         60 
MEPQKIMPPS KPHPPVVGKV THHSIELYWD LEKKAKRQGP QEQWFRFSIE EEDPKMHTYG 

        70         80         90        100        110        120 
IIYTGYATKH VVEGLEPRTL YRFRLKVTSP SGECEYSPLV SVSTTREPIS SEHLHRAVSV 

       130        140        150        160        170        180 
NDEDLLVRIL QGGRVKVDVP NKFGFTALMV AAQKGYTRLV KILVSNGTDV NLKNGSGKDS 

       190        200        210        220        230        240 
LMLACYAGHL DVVKYLRRHG ASWQARDLGG CTALHWAADG GHCSVIEWMI KDGCEVDVVD 

       250        260        270        280        290        300 
TGSGWTPLMR VSAVSGNQRV ASLLIDAGAN VNVKDRNGKT PLMVAVLNNH EELVQLLLDK 

       310        320        330        340 
GADASVKNEF GKGVLEMARV FDRQSVVSLL EERKKKQRPK KSCVC 

« Hide

Isoform 2 [UniParc].

Checksum: A78CFF7A8585AA9D
Show »

FASTA33637,245
Isoform 3 [UniParc].

Checksum: 45D09153B1E30635
Show »

FASTA37141,072

References

« Hide 'large scale' references
[1]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[2]"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: Testis.
[3]"A new spermatogenesis-related gene."
Hu T.H., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.
Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-345 (ISOFORM 2).
Tissue: Testis.
[4]"Fank1 is a testis-specific gene encoding a nuclear protein exclusively expressed during the transition from the meiotic to the haploid phase of spermatogenesis."
Zheng Z., Zheng H., Yan W.
Gene Expr. Patterns 7:777-783(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY358154 mRNA. Translation: AAQ88521.1.
BC024189 mRNA. Translation: AAH24189.2.
AY251163 mRNA. Translation: AAP20060.1.
RefSeqNP_660278.3. NM_145235.3.
UniGeneHs.352591.

3D structure databases

ProteinModelPortalQ8TC84.
SMRQ8TC84. Positions 1-333.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124956. 2 interactions.
STRING9606.ENSP00000357682.

PTM databases

PhosphoSiteQ8TC84.

Polymorphism databases

DMDM116241361.

Proteomic databases

PaxDbQ8TC84.
PRIDEQ8TC84.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000368693; ENSP00000357682; ENSG00000203780. [Q8TC84-1]
GeneID92565.
KEGGhsa:92565.
UCSCuc001ljh.4. human. [Q8TC84-1]
uc001lji.3. human. [Q8TC84-2]
uc009yan.3. human. [Q8TC84-3]

Organism-specific databases

CTD92565.
GeneCardsGC10P127575.
H-InvDBHIX0009297.
HGNCHGNC:23527. FANK1.
HPAHPA037557.
HPA038413.
MIM611640. gene.
neXtProtNX_Q8TC84.
PharmGKBPA134976727.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0666.
HOGENOMHOG000293255.
HOVERGENHBG051552.
OMADGGHCNV.
PhylomeDBQ8TC84.
TreeFamTF106234.

Gene expression databases

ArrayExpressQ8TC84.
BgeeQ8TC84.
CleanExHS_FANK1.
GenevestigatorQ8TC84.

Family and domain databases

Gene3D1.25.40.20. 1 hit.
2.60.40.10. 1 hit.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
[Graphical view]
PfamPF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSPR01415. ANKYRIN.
SMARTSM00248. ANK. 6 hits.
SM00060. FN3. 1 hit.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
SSF49265. SSF49265. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 5 hits.
PS50853. FN3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFANK1. human.
GenomeRNAi92565.
NextBio77799.
PROQ8TC84.
SOURCESearch...

Entry information

Entry nameFANK1_HUMAN
AccessionPrimary (citable) accession number: Q8TC84
Secondary accession number(s): Q6UXY9, Q6X7T6
Entry history
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 95 of the entry and version 3 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 10

Human chromosome 10: entries, gene names and cross-references to MIM