A4FU49 (SH321_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
SH3 domain-containing protein 21

Gene names

Name:	SH3D21
Synonyms:	C1orf113

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	640 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
Domain	Coiled coil SH3 domain
PTM	Phosphoprotein
Technical term	Complete 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 640	640	SH3 domain-containing protein 21		PRO_0000337129
Regions
	Domain	65 – 126	62	SH3
	Coiled coil	572 – 626	55	Potential
	Compositional bias	123 – 126	4	Poly-Pro
Amino acid modifications
	Modified residue	189	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 96	96	MVQSE…VKVLS → MIKEIEDGWWLGKRNGQLGA FPSNFVELLDSGPPSLGNPD MPSVSPGPQRPP in isoform 3.		VSP_040923
	Alternative sequence	1 – 30	30	MVQSE…NDKGG → MIKEIEDGWWLGKKNGQLGA FPSNFVELLDSGPPS in isoform 2.		VSP_040924
	Alternative sequence	1 – 30	30	MVQSE…NDKGG → MEVLVLAGYRAQKEDELSLA PGDVVRQVRWVPARGWLRGE FGGRYGLFPERLVQEIPETL RGSGEARRPRCARRRGHPAK HPRPQRWCKVNFSYSPEQAD ELKLQAGEIVEMIKEIEDGW WLGKKNGQLGAFPSNFVELL DSGPPS in isoform 5.		VSP_045936
	Alternative sequence	173 – 179	7	TSRTPSR → RKSTAAR in isoform 3.		VSP_040925
	Alternative sequence	180 – 640	461	Missing in isoform 3.		VSP_040926
	Alternative sequence	191 – 232	42	PNGGF…PVKAP → GRAQQPGKGPLCEENPHAGQ DCHPREAPSSRERPQLQEDP GS in isoform 4.		VSP_040927
	Alternative sequence	233 – 640	408	Missing in isoform 4.		VSP_040928
	Natural variant	217	1	S → A. Corresponds to variant rs12121759 [ dbSNP | Ensembl ].		VAR_043619
	Natural variant	455	1	A → S. Corresponds to variant rs12121759 [ dbSNP | Ensembl ].		VAR_056763
Experimental info
	Sequence conflict	327	1	K → E in BAB71191. Ref.1
	Sequence conflict	413	1	E → G in BAB71191. Ref.1
	Sequence conflict	541 – 542	2	TR → NS in BAB71191. Ref.1
	Sequence conflict	582	1	E → G in BAB71191. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 20, 2008. Version 2. Checksum: 59992262EE553FA3	FASTA	640	70,519
	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
	Isoform 2 [UniParc]. Checksum: D7FA6E6957E2036C	FASTA	645	71,238
	10 20 30 40 50 60 MIKEIEDGWW LGKKNGQLGA FPSNFVELLD SGPPSLGNPD MPSVSPGPQR PPKLSSLAYD 70 80 90 100 110 120 SPPDYLQTVS HPEVYRVLFD YQPEAPDELA LRRGDVVKVL SKTTEDKGWW EGECQGRRGV 130 140 150 160 170 180 FPDNFVLPPP PIKKLVPRKV VSRESAPIKE PKKLMPKTSL PTVKKLATAT TGPSKAKTSR 190 200 210 220 230 240 TPSRDSQKLT SRDSGPNGGF QSGGSYHPGR KRSKTQTPQQ RSVSSQEEEH SSPVKAPSVK 250 260 270 280 290 300 RTPMPDKTAT PERPPAPENA PSSKKIPAPD KVPSPEKTLT LGDKASIPGN STSGKIPAPD 310 320 330 340 350 360 KVPTPEKMVT PEDKASIPEN SIIPEETLTV DKPSTPERVF SVEESPALEA PPMDKVPNPK 370 380 390 400 410 420 MAPLGDEAPT LEKVLTPELS EEEVSTRDDI QFHHFSSEEA LQKVKYFVAK EDPSSQEEAH 430 440 450 460 470 480 TPEAPPPQPP SSERCLGEMK CTLVRGDSSP RQAELKSGPA SRPALEKPHP HEEATTLPEE 490 500 510 520 530 540 APSNDERTPE EEAPPNEQRP LREEVLPKEG VASKEEVTLK EELPPKEEVA PKEEVPPIER 550 560 570 580 590 600 AFAQKTRPIK PPPDSQETLA LPSLVPQNYT ENKNEGVDVT SLRGEVESLR RALELMEVQL 610 620 630 640 ERKLTDIWEE LKSEKEQRRR LEVQVMQGTQ KSQTPRVIHT QTQTY
	Isoform 3 [UniParc]. Checksum: 4790D889DFD47599	FASTA	135	14,779
	10 20 30 40 50 60 MIKEIEDGWW LGKRNGQLGA FPSNFVELLD SGPPSLGNPD MPSVSPGPQR PPKTTEDKGW 70 80 90 100 110 120 WEGECQGRRG VFPDNFVLPP PPIKKLVPRK VVSRESAPIK EPKKLMPKTS LPTVKKLATA 130 TTGPSKAKRK STAAR
	Isoform 4 [UniParc]. Checksum: 0DA164A88407EF27	FASTA	232	25,313
	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 SQKLTSRDSG GRAQQPGKGP LCEENPHAGQ DCHPREAPSS RERPQLQEDP GS
	Isoform 5 [UniParc]. Checksum: 1B6BA2463B701102	FASTA	756	83,970
	10 20 30 40 50 60 MEVLVLAGYR AQKEDELSLA PGDVVRQVRW VPARGWLRGE FGGRYGLFPE RLVQEIPETL 70 80 90 100 110 120 RGSGEARRPR CARRRGHPAK HPRPQRWCKV NFSYSPEQAD ELKLQAGEIV EMIKEIEDGW 130 140 150 160 170 180 WLGKKNGQLG AFPSNFVELL DSGPPSLGNP DMPSVSPGPQ RPPKLSSLAY DSPPDYLQTV 190 200 210 220 230 240 SHPEVYRVLF DYQPEAPDEL ALRRGDVVKV LSKTTEDKGW WEGECQGRRG VFPDNFVLPP 250 260 270 280 290 300 PPIKKLVPRK VVSRESAPIK EPKKLMPKTS LPTVKKLATA TTGPSKAKTS RTPSRDSQKL 310 320 330 340 350 360 TSRDSGPNGG FQSGGSYHPG RKRSKTQTPQ QRSVSSQEEE HSSPVKAPSV KRTPMPDKTA 370 380 390 400 410 420 TPERPPAPEN APSSKKIPAP DKVPSPEKTL TLGDKASIPG NSTSGKIPAP DKVPTPEKMV 430 440 450 460 470 480 TPEDKASIPE NSIIPEETLT VDKPSTPERV FSVEESPALE APPMDKVPNP KMAPLGDEAP 490 500 510 520 530 540 TLEKVLTPEL SEEEVSTRDD IQFHHFSSEE ALQKVKYFVA KEDPSSQEEA HTPEAPPPQP 550 560 570 580 590 600 PSSERCLGEM KCTLVRGDSS PRQAELKSGP ASRPALEKPH PHEEATTLPE EAPSNDERTP 610 620 630 640 650 660 EEEAPPNEQR PLREEVLPKE GVASKEEVTL KEELPPKEEV APKEEVPPIE RAFAQKTRPI 670 680 690 700 710 720 KPPPDSQETL ALPSLVPQNY TENKNEGVDV TSLRGEVESL RRALELMEVQ LERKLTDIWE 730 740 750 ELKSEKEQRR RLEVQVMQGT QKSQTPRVIH TQTQTY

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. , 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]	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. , 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.
IPI	IPI00395985. IPI00893644. IPI01008835. IPI01008859.
RefSeq	NP_001156002.1. NM_001162530.1. NP_078952.4. NM_024676.4.
UniGene	Hs.524496.
3D structure databases
ProteinModelPortal	A4FU49.
ModBase	Search...
Protein-protein interaction databases
IntAct	A4FU49. 1 interaction.
STRING	9606.ENSP00000321936.
PTM databases
PhosphoSite	A4FU49.
Proteomic databases
PaxDb	A4FU49.
PRIDE	A4FU49.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000312808; ENSP00000321936; ENSG00000214193. ENST00000426732; ENSP00000408613; ENSG00000214193. ENST00000453908; ENSP00000403476; ENSG00000214193. ENST00000505871; ENSP00000421294; ENSG00000214193.
GeneID	79729.
KEGG	hsa:79729.
UCSC	uc009vuz.1. human. uc010oia.1. human.
Organism-specific databases
CTD	79729.
GeneCards	GC01P036772.
H-InvDB	HIX0199850.
HGNC	HGNC:26236. SH3D21.
HPA	HPA042212. HPA042456.
neXtProt	NX_A4FU49.
PharmGKB	PA142672497.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG119357.
HOVERGEN	HBG107554.
InParanoid	A4FU49.
OrthoDB	EOG4C87S3.
Gene expression databases
ArrayExpress	A4FU49.
Bgee	A4FU49.
CleanEx	HS_C1orf113.
Genevestigator	A4FU49.
Family and domain databases
InterPro	IPR011511. SH3_2. IPR001452. SH3_domain. IPR013315. Spectrin_alpha_SH3. [Graphical view]
Pfam	PF07653. SH3_2. 1 hit. [Graphical view]
PRINTS	PR00452. SH3DOMAIN. PR01887. SPECTRNALPHA.
SMART	SM00326. SH3. 1 hit. [Graphical view]
SUPFAM	SSF50044. SH3. 1 hit.
PROSITE	PS50002. SH3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SH3D21. human.
GenomeRNAi	79729.
NextBio	35535373.

Entry information

Entry name

SH321_HUMAN

Accession

Primary (citable) accession number: A4FU49
Secondary accession number(s): B4DLI6 , 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:	May 1, 2013
This is version 58 of the entry and version 2 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.