Fibronectin type 3 and ankyrin repeat domains protein 1

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Q8TC84 (FANK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 86. History...

Clusters with 100%, 90%, 50% identity |

Documents (5) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Fibronectin type 3 and ankyrin repeat domains protein 1

Gene names

Name:	FANK1
ORF Names:	HSD13, UNQ6504/PRO21382

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	345 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm 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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 345

345

Fibronectin type 3 and ankyrin repeat domains protein 1

PRO_0000066990

Regions

Domain

8 – 105

Fibronectin type-III

Repeat

109 – 139

ANK 1

Repeat

143 – 172

ANK 2

Repeat

176 – 205

ANK 3

Repeat

209 – 238

ANK 4

Repeat

243 – 273

ANK 5

Repeat

277 – 306

ANK 6

Natural variations

Alternative sequence

106

R → RPSLSKSLVKIRMVTSVLHG PPTENTG in isoform 3.

VSP_013569

Alternative sequence

325 – 345

SVVSL…KSCVC → VGMLFLPIKANF in isoform 2.

VSP_013568

Natural variant

P → L.
Corresponds to variant rs17153879 [ dbSNP | Ensembl ].

VAR_048296

Natural variant

R → S.
Corresponds to variant rs17153882 [ dbSNP | Ensembl ].

VAR_027896

Natural variant

329

L → V.
Corresponds to variant rs1666 [ dbSNP | Ensembl ].

VAR_024176

Natural variant

343

C → F.
Corresponds to variant rs17153976 [ dbSNP | Ensembl ].

VAR_048297

Experimental info

Sequence conflict

K → R in AAH24189. Ref.2

Sequences

Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified October 17, 2006. Version 3. Checksum: 47C16DE1ABF814E5 Show »	FASTA	345	38,341
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 »	FASTA	336	37,245
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 GADASVKNEF GKGVLEMARV FDRQVGMLFL PIKANF « Hide
Isoform 3 [UniParc]. Checksum: 45D09153B1E30635 Show »	FASTA	371	41,072
10 20 30 40 50 60 MEPQKIMPPS KPHPPVVGKV THHSIELYWD LEKKAKRQGP QEQWFRFSIE EEDPKMHTYG 70 80 90 100 110 120 IIYTGYATKH VVEGLEPRTL YRFRLKVTSP SGECEYSPLV SVSTTRPSLS KSLVKIRMVT 130 140 150 160 170 180 SVLHGPPTEN TGEPISSEHL HRAVSVNDED LLVRILQGGR VKVDVPNKFG FTALMVAAQK 190 200 210 220 230 240 GYTRLVKILV SNGTDVNLKN GSGKDSLMLA CYAGHLDVVK YLRRHGASWQ ARDLGGCTAL 250 260 270 280 290 300 HWAADGGHCS VIEWMIKDGC EVDVVDTGSG WTPLMRVSAV SGNQRVASLL IDAGANVNVK 310 320 330 340 350 360 DRNGKTPLMV AVLNNHEELV QLLLDKGADA SVKNEFGKGV LEMARVFDRQ SVVSLLEERK 370 KKQRPKKSCV C « Hide

References

	« Hide 'large scale' referencesShow '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. 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.
IPI	IPI00152310. IPI00432772. IPI00556003.
RefSeq	NP_660278.3. NM_145235.3.
UniGene	Hs.352591.
3D structure databases
ProteinModelPortal	Q8TC84.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000357682.
PTM databases
PhosphoSite	Q8TC84.
Polymorphism databases
DMDM	116241361.
Proteomic databases
PaxDb	Q8TC84.
PRIDE	Q8TC84.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000368693; ENSP00000357682; ENSG00000203780.
GeneID	92565.
KEGG	hsa:92565.
UCSC	uc001ljh.4. human. uc001lji.3. human. uc009yan.3. human.
Organism-specific databases
CTD	92565.
GeneCards	GC10P127575.
H-InvDB	HIX0009297.
HGNC	HGNC:23527. FANK1.
HPA	HPA038413.
MIM	611640. gene.
neXtProt	NX_Q8TC84.
PharmGKB	PA134976727.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0666.
HOGENOM	HOG000293255.
HOVERGEN	HBG051552.
Gene expression databases
ArrayExpress	Q8TC84.
Bgee	Q8TC84.
CleanEx	HS_FANK1.
Genevestigator	Q8TC84.
Family and domain databases
Gene3D	1.25.40.20. 1 hit. 2.60.40.10. 1 hit.
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR003961. Fibronectin_type3. IPR013783. Ig-like_fold. [Graphical view]
Pfam	PF00023. Ank. 1 hit. PF12796. Ank_2. 2 hits. [Graphical view]
PRINTS	PR01415. ANKYRIN.
SMART	SM00248. ANK. 6 hits. SM00060. FN3. 1 hit. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit. SSF49265. FN_III-like. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 5 hits. PS50853. FN3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	FANK1. human.
GenomeRNAi	92565.
NextBio	77799.
SOURCE	Search...

Entry information

Entry name

FANK1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 86 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.

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

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List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Alternative products

Sequence annotation (Features)

Molecule processing

Regions

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents