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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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23527. FANK1.

Subcellular locationi

GO - Cellular componenti

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi92565.
OpenTargetsiENSG00000203780.
PharmGKBiPA134976727.

Polymorphism and mutation databases

BioMutaiFANK1.
DMDMi116241361.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000669901 – 345Fibronectin type 3 and ankyrin repeat domains protein 1Add BLAST345

Proteomic databases

PaxDbiQ8TC84.
PeptideAtlasiQ8TC84.
PRIDEiQ8TC84.

PTM databases

iPTMnetiQ8TC84.
PhosphoSitePlusiQ8TC84.

Expressioni

Tissue specificityi

Mostly restricted to testis.1 Publication

Gene expression databases

BgeeiENSG00000203780.
CleanExiHS_FANK1.
ExpressionAtlasiQ8TC84. baseline and differential.

Organism-specific databases

HPAiHPA037557.
HPA038413.

Interactioni

Protein-protein interaction databases

BioGridi124956. 7 interactors.
STRINGi9606.ENSP00000357682.

Structurei

3D structure databases

ProteinModelPortaliQ8TC84.
SMRiQ8TC84.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini8 – 108Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST101
Repeati109 – 139ANK 1Add BLAST31
Repeati143 – 172ANK 2Add BLAST30
Repeati176 – 205ANK 3Add BLAST30
Repeati209 – 238ANK 4Add BLAST30
Repeati243 – 273ANK 5Add BLAST31
Repeati277 – 306ANK 6Add BLAST30

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00890000139328.
HOGENOMiHOG000293255.
HOVERGENiHBG051552.
InParanoidiQ8TC84.
OMAiQFLVKRM.
OrthoDBiEOG091G0IMO.
PhylomeDBiQ8TC84.
TreeFamiTF106234.

Family and domain databases

CDDicd00204. ANK. 2 hits.
cd00063. FN3. 1 hit.
Gene3Di1.25.40.20. 2 hits.
2.60.40.10. 1 hit.
InterProiView protein in InterPro
IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
PfamiView protein in Pfam
PF12796. Ank_2. 1 hit.
PRINTSiPR01415. ANKYRIN.
SMARTiView protein in SMART
SM00248. ANK. 6 hits.
SM00060. FN3. 1 hit.
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF49265. SSF49265. 1 hit.
PROSITEiView protein in PROSITE
PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 5 hits.
PS50853. FN3. 1 hit.

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)DescriptionActionsGraphical viewLength
Sequence conflicti5K → R in AAH24189 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04829612P → L. Corresponds to variant dbSNP:rs17153879Ensembl.1
Natural variantiVAR_02789646R → S. Corresponds to variant dbSNP:rs17153882Ensembl.1
Natural variantiVAR_024176329L → V. Corresponds to variant dbSNP:rs1666Ensembl.1
Natural variantiVAR_048297343C → F. Corresponds to variant dbSNP:rs17153976Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_013569106R → RPSLSKSLVKIRMVTSVLHG PPTENTG in isoform 3. 1 Publication1
Alternative sequenceiVSP_013568325 – 345SVVSL…KSCVC → VGMLFLPIKANF in isoform 2. 1 PublicationAdd BLAST21

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]
XP_011538652.1. XM_011540350.2. [Q8TC84-3]
UniGeneiHs.352591.

Genome annotation databases

EnsembliENST00000368693; ENSP00000357682; ENSG00000203780. [Q8TC84-1]
GeneIDi92565.
KEGGihsa:92565.
UCSCiuc001ljh.5. human. [Q8TC84-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFANK1_HUMAN
AccessioniPrimary (citable) accession number: Q8TC84
Secondary accession number(s): Q6UXY9, Q6X7T6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: October 17, 2006
Last modified: August 30, 2017
This is version 126 of the entry and version 3 of the sequence. See 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