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Q8TC84

- FANK1_HUMAN

UniProt

Q8TC84 - FANK1_HUMAN

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Protein

Fibronectin type 3 and ankyrin repeat domains protein 1

Gene
FANK1, HSD13, UNQ6504/PRO21382
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Fibronectin type 3 and ankyrin repeat domains protein 1
Gene namesi
Name:FANK1
ORF Names:HSD13, UNQ6504/PRO21382
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:23527. FANK1.

Subcellular locationi

Nucleus. Cytoplasm By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134976727.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 345345Fibronectin type 3 and ankyrin repeat domains protein 1PRO_0000066990Add
BLAST

Proteomic databases

PaxDbiQ8TC84.
PRIDEiQ8TC84.

PTM databases

PhosphoSiteiQ8TC84.

Expressioni

Tissue specificityi

Mostly restricted to testis.1 Publication

Gene expression databases

ArrayExpressiQ8TC84.
BgeeiQ8TC84.
CleanExiHS_FANK1.
GenevestigatoriQ8TC84.

Organism-specific databases

HPAiHPA037557.
HPA038413.

Interactioni

Protein-protein interaction databases

BioGridi124956. 2 interactions.
STRINGi9606.ENSP00000357682.

Structurei

3D structure databases

ProteinModelPortaliQ8TC84.
SMRiQ8TC84. Positions 1-333.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini8 – 108101Fibronectin type-IIIAdd
BLAST
Repeati109 – 13931ANK 1Add
BLAST
Repeati143 – 17230ANK 2Add
BLAST
Repeati176 – 20530ANK 3Add
BLAST
Repeati209 – 23830ANK 4Add
BLAST
Repeati243 – 27331ANK 5Add
BLAST
Repeati277 – 30630ANK 6Add
BLAST

Sequence similaritiesi

Contains 6 ANK repeats.

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiCOG0666.
HOGENOMiHOG000293255.
HOVERGENiHBG051552.
OMAiCHEDSQD.
PhylomeDBiQ8TC84.
TreeFamiTF106234.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
2.60.40.10. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 6 hits.
SM00060. FN3. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF49265. SSF49265. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 5 hits.
PS50853. FN3. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8TC84-1) [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

MEPQKIMPPS KPHPPVVGKV THHSIELYWD LEKKAKRQGP QEQWFRFSIE    50
EEDPKMHTYG IIYTGYATKH VVEGLEPRTL YRFRLKVTSP SGECEYSPLV 100
SVSTTREPIS SEHLHRAVSV NDEDLLVRIL QGGRVKVDVP NKFGFTALMV 150
AAQKGYTRLV KILVSNGTDV NLKNGSGKDS LMLACYAGHL DVVKYLRRHG 200
ASWQARDLGG CTALHWAADG GHCSVIEWMI KDGCEVDVVD TGSGWTPLMR 250
VSAVSGNQRV ASLLIDAGAN VNVKDRNGKT PLMVAVLNNH EELVQLLLDK 300
GADASVKNEF GKGVLEMARV FDRQSVVSLL EERKKKQRPK KSCVC 345
Length:345
Mass (Da):38,341
Last modified:October 17, 2006 - v3
Checksum:i47C16DE1ABF814E5
GO
Isoform 2 (identifier: Q8TC84-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     325-345: SVVSLLEERKKKQRPKKSCVC → VGMLFLPIKANF

Show »
Length:336
Mass (Da):37,245
Checksum:iA78CFF7A8585AA9D
GO
Isoform 3 (identifier: Q8TC84-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     106-106: R → RPSLSKSLVKIRMVTSVLHGPPTENTG

Note: No experimental confirmation available.

Show »
Length:371
Mass (Da):41,072
Checksum:i45D09153B1E30635
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121P → L.
Corresponds to variant rs17153879 [ dbSNP | Ensembl ].
VAR_048296
Natural varianti46 – 461R → S.
Corresponds to variant rs17153882 [ dbSNP | Ensembl ].
VAR_027896
Natural varianti329 – 3291L → V.
Corresponds to variant rs1666 [ dbSNP | Ensembl ].
VAR_024176
Natural varianti343 – 3431C → F.
Corresponds to variant rs17153976 [ dbSNP | Ensembl ].
VAR_048297

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei106 – 1061R → RPSLSKSLVKIRMVTSVLHG PPTENTG in isoform 3. VSP_013569
Alternative sequencei325 – 34521SVVSL…KSCVC → VGMLFLPIKANF in isoform 2. VSP_013568Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51K → R in AAH24189. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY358154 mRNA. Translation: AAQ88521.1.
BC024189 mRNA. Translation: AAH24189.2.
AY251163 mRNA. Translation: AAP20060.1.
CCDSiCCDS31309.1. [Q8TC84-1]
RefSeqiNP_660278.3. NM_145235.3. [Q8TC84-1]
UniGeneiHs.352591.

Genome annotation databases

EnsembliENST00000368693; ENSP00000357682; ENSG00000203780. [Q8TC84-1]
GeneIDi92565.
KEGGihsa:92565.
UCSCiuc001ljh.4. human. [Q8TC84-1]
uc001lji.3. human. [Q8TC84-2]
uc009yan.3. human. [Q8TC84-3]

Polymorphism databases

DMDMi116241361.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY358154 mRNA. Translation: AAQ88521.1 .
BC024189 mRNA. Translation: AAH24189.2 .
AY251163 mRNA. Translation: AAP20060.1 .
CCDSi CCDS31309.1. [Q8TC84-1 ]
RefSeqi NP_660278.3. NM_145235.3. [Q8TC84-1 ]
UniGenei Hs.352591.

3D structure databases

ProteinModelPortali Q8TC84.
SMRi Q8TC84. Positions 1-333.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124956. 2 interactions.
STRINGi 9606.ENSP00000357682.

PTM databases

PhosphoSitei Q8TC84.

Polymorphism databases

DMDMi 116241361.

Proteomic databases

PaxDbi Q8TC84.
PRIDEi Q8TC84.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000368693 ; ENSP00000357682 ; ENSG00000203780 . [Q8TC84-1 ]
GeneIDi 92565.
KEGGi hsa:92565.
UCSCi uc001ljh.4. human. [Q8TC84-1 ]
uc001lji.3. human. [Q8TC84-2 ]
uc009yan.3. human. [Q8TC84-3 ]

Organism-specific databases

CTDi 92565.
GeneCardsi GC10P127575.
H-InvDB HIX0009297.
HGNCi HGNC:23527. FANK1.
HPAi HPA037557.
HPA038413.
MIMi 611640. gene.
neXtProti NX_Q8TC84.
PharmGKBi PA134976727.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0666.
HOGENOMi HOG000293255.
HOVERGENi HBG051552.
OMAi CHEDSQD.
PhylomeDBi Q8TC84.
TreeFami TF106234.

Miscellaneous databases

ChiTaRSi FANK1. human.
GenomeRNAii 92565.
NextBioi 77799.
PROi Q8TC84.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8TC84.
Bgeei Q8TC84.
CleanExi HS_FANK1.
Genevestigatori Q8TC84.

Family and domain databases

Gene3Di 1.25.40.20. 1 hit.
2.60.40.10. 1 hit.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
[Graphical view ]
Pfami PF12796. Ank_2. 2 hits.
[Graphical view ]
PRINTSi PR01415. ANKYRIN.
SMARTi SM00248. ANK. 6 hits.
SM00060. FN3. 1 hit.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
SSF49265. SSF49265. 1 hit.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 5 hits.
PS50853. FN3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.

Entry informationi

Entry nameiFANK1_HUMAN
AccessioniPrimary (citable) accession number: Q8TC84
Secondary accession number(s): Q6UXY9, Q6X7T6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 98 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 10
    Human chromosome 10: 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

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