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A4FU49 (SH321_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
SH3 domain-containing protein 21
Gene names
Name:SH3D21
Synonyms:C1orf113
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length640 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 SH3 domain.

Sequence caution

The sequence AAI01677.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

The sequence AAI01679.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

The sequence BAB15504.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB71191.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

The sequence CAH71860.2 differs from that shown. Reason: Erroneous gene model prediction.

The sequence EAX07375.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence EAX07376.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
SH3 domain
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: A4FU49-1)

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.
Note: No experimental confirmation available. Gene prediction based on EST data and similarity to mouse and macaca fascicularis orthologs.
Isoform 2 (identifier: A4FU49-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: MVQSELQLQPRAGGRAEAASWGDRGNDKGG → MIKEIEDGWWLGKKNGQLGAFPSNFVELLDSGPPS
Note: No experimental confirmation available.
Isoform 3 (identifier: A4FU49-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-96: MVQSELQLQP...RRGDVVKVLS → MIKEIEDGWW...SVSPGPQRPP
     173-179: TSRTPSR → RKSTAAR
     180-640: Missing.
Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoform 4 (identifier: A4FU49-5)

The sequence of this isoform differs from the canonical sequence as follows:
     191-232: PNGGFQSGGS...EEHSSPVKAP → GRAQQPGKGP...RPQLQEDPGS
     233-640: Missing.
Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoform 5 (identifier: A4FU49-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: MVQSELQLQPRAGGRAEAASWGDRGNDKGG → MEVLVLAGYR...VELLDSGPPS

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 640640SH3 domain-containing protein 21
PRO_0000337129

Regions

Domain65 – 12662SH3
Coiled coil572 – 62655 Potential
Compositional bias123 – 1264Poly-Pro

Natural variations

Alternative sequence1 – 9696MVQSE…VKVLS → MIKEIEDGWWLGKRNGQLGA FPSNFVELLDSGPPSLGNPD MPSVSPGPQRPP in isoform 3.
VSP_040923
Alternative sequence1 – 3030MVQSE…NDKGG → MIKEIEDGWWLGKKNGQLGA FPSNFVELLDSGPPS in isoform 2.
VSP_040924
Alternative sequence1 – 3030MVQSE…NDKGG → MEVLVLAGYRAQKEDELSLA PGDVVRQVRWVPARGWLRGE FGGRYGLFPERLVQEIPETL RGSGEARRPRCARRRGHPAK HPRPQRWCKVNFSYSPEQAD ELKLQAGEIVEMIKEIEDGW WLGKKNGQLGAFPSNFVELL DSGPPS in isoform 5.
VSP_045936
Alternative sequence173 – 1797TSRTPSR → RKSTAAR in isoform 3.
VSP_040925
Alternative sequence180 – 640461Missing in isoform 3.
VSP_040926
Alternative sequence191 – 23242PNGGF…PVKAP → GRAQQPGKGPLCEENPHAGQ DCHPREAPSSRERPQLQEDP GS in isoform 4.
VSP_040927
Alternative sequence233 – 640408Missing in isoform 4.
VSP_040928
Natural variant2171S → A.
Corresponds to variant rs12121759 [ dbSNP | Ensembl ].
VAR_043619
Natural variant4551A → S.
Corresponds to variant rs12121759 [ dbSNP | Ensembl ].
VAR_056763

Experimental info

Sequence conflict3271K → E in BAB71191. Ref.1
Sequence conflict4131E → G in BAB71191. Ref.1
Sequence conflict541 – 5422TR → NS in BAB71191. Ref.1
Sequence conflict5821E → G in BAB71191. Ref.1

Sequences

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

Last modified May 20, 2008. Version 2.
Checksum: 59992262EE553FA3

FASTA64070,519
        10         20         30         40         50         60 
MVQSELQLQP RAGGRAEAAS WGDRGNDKGG LGNPDMPSVS PGPQRPPKLS SLAYDSPPDY 

        70         80         90        100        110        120 
LQTVSHPEVY RVLFDYQPEA PDELALRRGD VVKVLSKTTE DKGWWEGECQ GRRGVFPDNF 

       130        140        150        160        170        180 
VLPPPPIKKL VPRKVVSRES APIKEPKKLM PKTSLPTVKK LATATTGPSK AKTSRTPSRD 

       190        200        210        220        230        240 
SQKLTSRDSG PNGGFQSGGS YHPGRKRSKT QTPQQRSVSS QEEEHSSPVK APSVKRTPMP 

       250        260        270        280        290        300 
DKTATPERPP APENAPSSKK IPAPDKVPSP EKTLTLGDKA SIPGNSTSGK IPAPDKVPTP 

       310        320        330        340        350        360 
EKMVTPEDKA SIPENSIIPE ETLTVDKPST PERVFSVEES PALEAPPMDK VPNPKMAPLG 

       370        380        390        400        410        420 
DEAPTLEKVL TPELSEEEVS TRDDIQFHHF SSEEALQKVK YFVAKEDPSS QEEAHTPEAP 

       430        440        450        460        470        480 
PPQPPSSERC LGEMKCTLVR GDSSPRQAEL KSGPASRPAL EKPHPHEEAT TLPEEAPSND 

       490        500        510        520        530        540 
ERTPEEEAPP NEQRPLREEV LPKEGVASKE EVTLKEELPP KEEVAPKEEV PPIERAFAQK 

       550        560        570        580        590        600 
TRPIKPPPDS QETLALPSLV PQNYTENKNE GVDVTSLRGE VESLRRALEL MEVQLERKLT 

       610        620        630        640 
DIWEELKSEK EQRRRLEVQV MQGTQKSQTP RVIHTQTQTY 

« Hide

Isoform 2 [UniParc].

Checksum: D7FA6E6957E2036C
Show »

FASTA64571,238
Isoform 3 [UniParc].

Checksum: 4790D889DFD47599
Show »

FASTA13514,779
Isoform 4 [UniParc].

Checksum: 0DA164A88407EF27
Show »

FASTA23225,313
Isoform 5 [UniParc].

Checksum: 1B6BA2463B701102
Show »

FASTA75683,970

References

[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
Tissue: Signet-ring cell carcinoma, Teratocarcinoma and Umbilical cord blood.
[2]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] OF 162-640 (ISOFORMS 3 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 379-640 (ISOFORM 2).
Tissue: Brain, Liver and Ovary.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK026591 mRNA. Translation: BAB15504.1. Different initiation.
AK297015 mRNA. Translation: BAG59548.1.
AK056459 mRNA. Translation: BAB71191.1. Sequence problems.
AL591845 Genomic DNA. Translation: CAH71860.2. Sequence problems.
CH471059 Genomic DNA. Translation: EAX07374.1.
CH471059 Genomic DNA. Translation: EAX07375.1. Sequence problems.
CH471059 Genomic DNA. Translation: EAX07376.1. Sequence problems.
BC036763 mRNA. Translation: AAH36763.1.
BC048273 mRNA. Translation: AAH48273.1.
BC101676 mRNA. Translation: AAI01677.1. Sequence problems.
BC101678 mRNA. Translation: AAI01679.1. Sequence problems.
CCDSCCDS30674.2. [A4FU49-3]
CCDS53298.1. [A4FU49-6]
RefSeqNP_001156002.1. NM_001162530.1. [A4FU49-6]
NP_078952.4. NM_024676.4. [A4FU49-3]
UniGeneHs.524496.

3D structure databases

ProteinModelPortalA4FU49.
SMRA4FU49. Positions 71-121.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActA4FU49. 1 interaction.
STRING9606.ENSP00000321936.

PTM databases

PhosphoSiteA4FU49.

Proteomic databases

PaxDbA4FU49.
PRIDEA4FU49.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000426732; ENSP00000408613; ENSG00000214193. [A4FU49-1]
ENST00000453908; ENSP00000403476; ENSG00000214193. [A4FU49-6]
ENST00000505871; ENSP00000421294; ENSG00000214193. [A4FU49-3]
GeneID79729.
KEGGhsa:79729.
UCSCuc009vuz.1. human. [A4FU49-1]
uc010oib.1. human. [A4FU49-3]

Organism-specific databases

CTD79729.
GeneCardsGC01P036772.
H-InvDBHIX0199850.
HGNCHGNC:26236. SH3D21.
HPAHPA042212.
HPA042456.
neXtProtNX_A4FU49.
PharmGKBPA142672497.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG119357.
HOVERGENHBG107554.
InParanoidA4FU49.
OMAFAQKTRP.
OrthoDBEOG7P8P7T.
PhylomeDBA4FU49.
TreeFamTF351294.

Gene expression databases

ArrayExpressA4FU49.
BgeeA4FU49.
CleanExHS_C1orf113.
GenevestigatorA4FU49.

Family and domain databases

InterProIPR011511. SH3_2.
IPR001452. SH3_domain.
IPR013315. Spectrin_alpha_SH3.
[Graphical view]
PfamPF07653. SH3_2. 1 hit.
[Graphical view]
PRINTSPR00452. SH3DOMAIN.
PR01887. SPECTRNALPHA.
SMARTSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
PROSITEPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSH3D21. human.
GenomeRNAi79729.
NextBio35535373.
PROA4FU49.

Entry information

Entry nameSH321_HUMAN
AccessionPrimary (citable) accession number: A4FU49
Secondary accession number(s): B4DLI6 expand/collapse secondary AC list , D3DPS6, J3KQM5, Q5VTK7, Q86XZ6, Q8N445, Q96DN4, Q9H5W5
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: July 9, 2014
This is version 67 of the entry and version 2 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

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 1

Human chromosome 1: entries, gene names and cross-references to MIM