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A4FU49

- SH321_HUMAN

UniProt

A4FU49 - SH321_HUMAN

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Protein
SH3 domain-containing protein 21
Gene
SH3D21, C1orf113
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
SH3 domain-containing protein 21
Gene namesi
Name:SH3D21
Synonyms:C1orf113
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:26236. SH3D21.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672497.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 640640SH3 domain-containing protein 21
PRO_0000337129Add
BLAST

Proteomic databases

PaxDbiA4FU49.
PRIDEiA4FU49.

PTM databases

PhosphoSiteiA4FU49.

Expressioni

Gene expression databases

ArrayExpressiA4FU49.
BgeeiA4FU49.
CleanExiHS_C1orf113.
GenevestigatoriA4FU49.

Organism-specific databases

HPAiHPA042212.
HPA042456.

Interactioni

Protein-protein interaction databases

IntActiA4FU49. 1 interaction.
STRINGi9606.ENSP00000321936.

Structurei

3D structure databases

ProteinModelPortaliA4FU49.
SMRiA4FU49. Positions 71-121.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini65 – 12662SH3
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili572 – 62655 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi123 – 1264Poly-Pro

Sequence similaritiesi

Contains 1 SH3 domain.

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiNOG119357.
HOVERGENiHBG107554.
InParanoidiA4FU49.
OMAiFAQKTRP.
OrthoDBiEOG7P8P7T.
PhylomeDBiA4FU49.
TreeFamiTF351294.

Family and domain databases

InterProiIPR011511. SH3_2.
IPR001452. SH3_domain.
IPR013315. Spectrin_alpha_SH3.
[Graphical view]
PfamiPF07653. SH3_2. 1 hit.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
PR01887. SPECTRNALPHA.
SMARTiSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: A4FU49-1) [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

MVQSELQLQP RAGGRAEAAS WGDRGNDKGG LGNPDMPSVS PGPQRPPKLS    50
SLAYDSPPDY LQTVSHPEVY RVLFDYQPEA PDELALRRGD VVKVLSKTTE 100
DKGWWEGECQ GRRGVFPDNF VLPPPPIKKL VPRKVVSRES APIKEPKKLM 150
PKTSLPTVKK LATATTGPSK AKTSRTPSRD SQKLTSRDSG PNGGFQSGGS 200
YHPGRKRSKT QTPQQRSVSS QEEEHSSPVK APSVKRTPMP DKTATPERPP 250
APENAPSSKK IPAPDKVPSP EKTLTLGDKA SIPGNSTSGK IPAPDKVPTP 300
EKMVTPEDKA SIPENSIIPE ETLTVDKPST PERVFSVEES PALEAPPMDK 350
VPNPKMAPLG DEAPTLEKVL TPELSEEEVS TRDDIQFHHF SSEEALQKVK 400
YFVAKEDPSS QEEAHTPEAP PPQPPSSERC LGEMKCTLVR GDSSPRQAEL 450
KSGPASRPAL EKPHPHEEAT TLPEEAPSND ERTPEEEAPP NEQRPLREEV 500
LPKEGVASKE EVTLKEELPP KEEVAPKEEV PPIERAFAQK TRPIKPPPDS 550
QETLALPSLV PQNYTENKNE GVDVTSLRGE VESLRRALEL MEVQLERKLT 600
DIWEELKSEK EQRRRLEVQV MQGTQKSQTP RVIHTQTQTY 640

Note: No experimental confirmation available. Gene prediction based on EST data and similarity to mouse and macaca fascicularis orthologs.

Length:640
Mass (Da):70,519
Last modified:May 20, 2008 - v2
Checksum:i59992262EE553FA3
GO
Isoform 2 (identifier: A4FU49-3) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:645
Mass (Da):71,238
Checksum:iD7FA6E6957E2036C
GO
Isoform 3 (identifier: A4FU49-4) [UniParc]FASTAAdd to Basket

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.

Show »
Length:135
Mass (Da):14,779
Checksum:i4790D889DFD47599
GO
Isoform 4 (identifier: A4FU49-5) [UniParc]FASTAAdd to Basket

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.

Show »
Length:232
Mass (Da):25,313
Checksum:i0DA164A88407EF27
GO
Isoform 5 (identifier: A4FU49-6) [UniParc]FASTAAdd to Basket

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

Show »
Length:756
Mass (Da):83,970
Checksum:i1B6BA2463B701102
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti217 – 2171S → A.
Corresponds to variant rs12121759 [ dbSNP | Ensembl ].
VAR_043619
Natural varianti455 – 4551A → S.
Corresponds to variant rs12121759 [ dbSNP | Ensembl ].
VAR_056763

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9696MVQSE…VKVLS → MIKEIEDGWWLGKRNGQLGA FPSNFVELLDSGPPSLGNPD MPSVSPGPQRPP in isoform 3.
VSP_040923Add
BLAST
Alternative sequencei1 – 3030MVQSE…NDKGG → MIKEIEDGWWLGKKNGQLGA FPSNFVELLDSGPPS in isoform 2.
VSP_040924Add
BLAST
Alternative sequencei1 – 3030MVQSE…NDKGG → MEVLVLAGYRAQKEDELSLA PGDVVRQVRWVPARGWLRGE FGGRYGLFPERLVQEIPETL RGSGEARRPRCARRRGHPAK HPRPQRWCKVNFSYSPEQAD ELKLQAGEIVEMIKEIEDGW WLGKKNGQLGAFPSNFVELL DSGPPS in isoform 5.
VSP_045936Add
BLAST
Alternative sequencei173 – 1797TSRTPSR → RKSTAAR in isoform 3.
VSP_040925
Alternative sequencei180 – 640461Missing in isoform 3.
VSP_040926Add
BLAST
Alternative sequencei191 – 23242PNGGF…PVKAP → GRAQQPGKGPLCEENPHAGQ DCHPREAPSSRERPQLQEDP GS in isoform 4.
VSP_040927Add
BLAST
Alternative sequencei233 – 640408Missing in isoform 4.
VSP_040928Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti327 – 3271K → E in BAB71191. 1 Publication
Sequence conflicti413 – 4131E → G in BAB71191. 1 Publication
Sequence conflicti541 – 5422TR → NS in BAB71191. 1 Publication
Sequence conflicti582 – 5821E → G in BAB71191. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS30674.2. [A4FU49-3]
CCDS53298.1. [A4FU49-6]
RefSeqiNP_001156002.1. NM_001162530.1. [A4FU49-6]
NP_078952.4. NM_024676.4. [A4FU49-3]
UniGeneiHs.524496.

Genome annotation databases

EnsembliENST00000426732; ENSP00000408613; ENSG00000214193. [A4FU49-1]
ENST00000453908; ENSP00000403476; ENSG00000214193. [A4FU49-6]
ENST00000505871; ENSP00000421294; ENSG00000214193. [A4FU49-3]
GeneIDi79729.
KEGGihsa:79729.
UCSCiuc009vuz.1. human. [A4FU49-1]
uc010oia.1. human.
uc010oib.1. human. [A4FU49-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS30674.2. [A4FU49-3 ]
CCDS53298.1. [A4FU49-6 ]
RefSeqi NP_001156002.1. NM_001162530.1. [A4FU49-6 ]
NP_078952.4. NM_024676.4. [A4FU49-3 ]
UniGenei Hs.524496.

3D structure databases

ProteinModelPortali A4FU49.
SMRi A4FU49. Positions 71-121.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi A4FU49. 1 interaction.
STRINGi 9606.ENSP00000321936.

PTM databases

PhosphoSitei A4FU49.

Proteomic databases

PaxDbi A4FU49.
PRIDEi A4FU49.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000426732 ; ENSP00000408613 ; ENSG00000214193 . [A4FU49-1 ]
ENST00000453908 ; ENSP00000403476 ; ENSG00000214193 . [A4FU49-6 ]
ENST00000505871 ; ENSP00000421294 ; ENSG00000214193 . [A4FU49-3 ]
GeneIDi 79729.
KEGGi hsa:79729.
UCSCi uc009vuz.1. human. [A4FU49-1 ]
uc010oia.1. human.
uc010oib.1. human. [A4FU49-3 ]

Organism-specific databases

CTDi 79729.
GeneCardsi GC01P036772.
H-InvDB HIX0199850.
HGNCi HGNC:26236. SH3D21.
HPAi HPA042212.
HPA042456.
neXtProti NX_A4FU49.
PharmGKBi PA142672497.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG119357.
HOVERGENi HBG107554.
InParanoidi A4FU49.
OMAi FAQKTRP.
OrthoDBi EOG7P8P7T.
PhylomeDBi A4FU49.
TreeFami TF351294.

Miscellaneous databases

ChiTaRSi SH3D21. human.
GenomeRNAii 79729.
NextBioi 35535373.
PROi A4FU49.

Gene expression databases

ArrayExpressi A4FU49.
Bgeei A4FU49.
CleanExi HS_C1orf113.
Genevestigatori A4FU49.

Family and domain databases

InterProi IPR011511. SH3_2.
IPR001452. SH3_domain.
IPR013315. Spectrin_alpha_SH3.
[Graphical view ]
Pfami PF07653. SH3_2. 1 hit.
[Graphical view ]
PRINTSi PR00452. SH3DOMAIN.
PR01887. SPECTRNALPHA.
SMARTi SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
PROSITEi PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiSH321_HUMAN
AccessioniPrimary (citable) accession number: A4FU49
Secondary accession number(s): B4DLI6
, D3DPS6, J3KQM5, Q5VTK7, Q86XZ6, Q8N445, Q96DN4, Q9H5W5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: September 3, 2014
This is version 68 of the entry and version 2 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 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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