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Protein

Fibronectin type 3 and ankyrin repeat domains protein 1

Gene

FANK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23527. FANK1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134976727.

Polymorphism and mutation databases

BioMutaiFANK1.
DMDMi116241361.

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

BgeeiQ8TC84.
CleanExiHS_FANK1.
ExpressionAtlasiQ8TC84. baseline and differential.
GenevestigatoriQ8TC84.

Organism-specific databases

HPAiHPA037557.
HPA038413.

Interactioni

Protein-protein interaction databases

BioGridi124956. 6 interactions.
STRINGi9606.ENSP00000357682.

Structurei

3D structure databases

ProteinModelPortaliQ8TC84.
SMRiQ8TC84. Positions 1-339.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini8 – 108101Fibronectin type-IIIPROSITE-ProRule annotationAdd
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.PROSITE-ProRule annotation
Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiCOG0666.
GeneTreeiENSGT00760000118867.
HOGENOMiHOG000293255.
HOVERGENiHBG051552.
InParanoidiQ8TC84.
OMAiDGGHCNV.
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. FN3_dom.
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. AlignAdd to basket

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

        10         20         30         40         50
MEPQKIMPPS KPHPPVVGKV THHSIELYWD LEKKAKRQGP QEQWFRFSIE
60 70 80 90 100
EEDPKMHTYG IIYTGYATKH VVEGLEPRTL YRFRLKVTSP SGECEYSPLV
110 120 130 140 150
SVSTTREPIS SEHLHRAVSV NDEDLLVRIL QGGRVKVDVP NKFGFTALMV
160 170 180 190 200
AAQKGYTRLV KILVSNGTDV NLKNGSGKDS LMLACYAGHL DVVKYLRRHG
210 220 230 240 250
ASWQARDLGG CTALHWAADG GHCSVIEWMI KDGCEVDVVD TGSGWTPLMR
260 270 280 290 300
VSAVSGNQRV ASLLIDAGAN VNVKDRNGKT PLMVAVLNNH EELVQLLLDK
310 320 330 340
GADASVKNEF GKGVLEMARV FDRQSVVSLL EERKKKQRPK KSCVC
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51K → R in AAH24189 (PubMed:15489334).Curated

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. 1 PublicationVSP_013569
Alternative sequencei325 – 34521SVVSL…KSCVC → VGMLFLPIKANF in isoform 2. 1 PublicationVSP_013568Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ8TC84.
SMRiQ8TC84. Positions 1-339.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124956. 6 interactions.
STRINGi9606.ENSP00000357682.

PTM databases

PhosphoSiteiQ8TC84.

Polymorphism and mutation databases

BioMutaiFANK1.
DMDMi116241361.

Proteomic databases

PaxDbiQ8TC84.
PRIDEiQ8TC84.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi92565.
GeneCardsiGC10P127575.
H-InvDBHIX0009297.
HGNCiHGNC:23527. FANK1.
HPAiHPA037557.
HPA038413.
MIMi611640. gene.
neXtProtiNX_Q8TC84.
PharmGKBiPA134976727.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0666.
GeneTreeiENSGT00760000118867.
HOGENOMiHOG000293255.
HOVERGENiHBG051552.
InParanoidiQ8TC84.
OMAiDGGHCNV.
PhylomeDBiQ8TC84.
TreeFamiTF106234.

Miscellaneous databases

ChiTaRSiFANK1. human.
GenomeRNAii92565.
NextBioi77799.
PROiQ8TC84.
SOURCEiSearch...

Gene expression databases

BgeeiQ8TC84.
CleanExiHS_FANK1.
ExpressionAtlasiQ8TC84. baseline and differential.
GenevestigatoriQ8TC84.

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. FN3_dom.
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]
ProtoNetiSearch...

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: May 27, 2015
This is version 104 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

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 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.