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Protein

SPOC domain-containing protein 1

Gene

SPOCD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

  • negative regulation of phosphatase activity Source: UniProtKB
  • transcription, DNA-templated Source: InterPro
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
SPOC domain-containing protein 1
Gene namesi
Name:SPOCD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:26338. SPOCD1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134930231.

Polymorphism and mutation databases

BioMutaiSPOCD1.
DMDMi74749560.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12161216SPOC domain-containing protein 1PRO_0000287472Add
BLAST

Proteomic databases

EPDiQ6ZMY3.
PaxDbiQ6ZMY3.
PeptideAtlasiQ6ZMY3.
PRIDEiQ6ZMY3.

PTM databases

iPTMnetiQ6ZMY3.

Expressioni

Gene expression databases

BgeeiQ6ZMY3.
CleanExiHS_SPOCD1.
ExpressionAtlasiQ6ZMY3. baseline and differential.
GenevisibleiQ6ZMY3. HS.

Organism-specific databases

HPAiHPA031713.
HPA031715.

Interactioni

Protein-protein interaction databases

BioGridi124772. 2 interactions.
IntActiQ6ZMY3. 2 interactions.
STRINGi9606.ENSP00000353670.

Structurei

3D structure databases

ProteinModelPortaliQ6ZMY3.
SMRiQ6ZMY3. Positions 608-709.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini608 – 728121TFIIS centralPROSITE-ProRule annotationAdd
BLAST
Domaini867 – 970104SPOCAdd
BLAST

Sequence similaritiesi

Contains 1 SPOC domain.Curated
Contains 1 TFIIS central domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1634. Eukaryota.
ENOG410ZCN4. LUCA.
GeneTreeiENSGT00530000063844.
InParanoidiQ6ZMY3.
KOiK17596.
OMAiHGVKLVC.
OrthoDBiEOG7W41B0.
PhylomeDBiQ6ZMY3.
TreeFamiTF350578.

Family and domain databases

Gene3Di1.10.472.30. 1 hit.
InterProiIPR012921. SPOC_C.
IPR003618. TFIIS_cen_dom.
[Graphical view]
PfamiPF07744. SPOC. 1 hit.
PF07500. TFIIS_M. 1 hit.
[Graphical view]
SMARTiSM00510. TFS2M. 1 hit.
[Graphical view]
SUPFAMiSSF46942. SSF46942. 1 hit.
PROSITEiPS51321. TFIIS_CENTRAL. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZMY3-1) [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
MSQAGDVEGP STGDPVLSPQ HNCELLQNME GASSMPGLSP DGPGASSGPG
60 70 80 90 100
VRAGSRRKIP RKEALRGGSS RAAGAAEVRP GVLELLAVVQ SRGSMLAPGL
110 120 130 140 150
HMQLPSVPTQ GRALTSKRLQ VSLCDILDDS CPRKLCSRSA GLPERALACR
160 170 180 190 200
ERLAGVEEVS CLRPREARDG GMSSPGCDRR SPTLSKEEPP GRPLTSSPDP
210 220 230 240 250
VPVRVRKKWR RQGAHSECEE GAGDFLWLDQ SPRGDNLLSV GDPPQVADLE
260 270 280 290 300
SLGGPCRPPS PKDTGSGPGE PGGSGAGCAS GTEKFGYLPA TGDGPQPGSP
310 320 330 340 350
CGPVGFPVPS GGESLSSAAQ APPQSAALCL GASAQASAEQ QEAVCVVRTG
360 370 380 390 400
SDEGQAPAQD QEELEAKAQP ASRGRLEQGL AAPADTCASS REPLGGLSSS
410 420 430 440 450
LDTEASRACS GPFMEQRRSK GTKNLKKGPV PCAQDRGTDR SSDNSHQDRP
460 470 480 490 500
EEPSPGGCPR LEEVKIPHGV KLVCYLGSGP VIQLLGAISH GQAGGQLPPK
510 520 530 540 550
LEVLEDLMEV SSPSPAQRLR RKKRPMVQGP AGCQVFQPSP SGGTAGDPGG
560 570 580 590 600
LSDPFYPPRS GSLALGDPSS DPACSQSGPM EAEEDSLPEQ PEDSAQLQQE
610 620 630 640 650
KPSLYIGVRG TVVRSMQEVL WTRLRELPDP VLSEEVVEGI AAGIEAALWD
660 670 680 690 700
LTQGTNGRYK TKYRSLLFNL RDPRNLDLFL KVVHGDVTPY DLVRMSSMQL
710 720 730 740 750
APQELARWRD QEEKRGLNII EQQQKEPCRL PASKMTHKGE VEIQRDMDQT
760 770 780 790 800
LTLEDLVGPQ MFMDCSPQAL PIASEDTTGQ HDHHFLDPNC HICKDWEPSN
810 820 830 840 850
ELLGSFEAAK SCGDNIFQKA LSQTPMPAPE MPKTRELSPT EPQDRVPPSG
860 870 880 890 900
LHVPAAPTKA LPCLPPWEGV LDMFSIKRFR ARAQLVSGHS CRLVQALPTV
910 920 930 940 950
IRSAGCIPSN IVWDLLASIC PAKAKDVCVV RLCPHGARDT QNCRLLYSYL
960 970 980 990 1000
NDRQRHGLAS VEHMGMVLLP LPAFQPLPTR LRPLGGPGLW ALPVSPLLSP
1010 1020 1030 1040 1050
GLEVTHSSLL LAVLLPKEGL PDTAGSSPWL GKVQKMVSFN SKVEKRYYQP
1060 1070 1080 1090 1100
DDRRPNVPLK GTPPPGGAWQ QSQGRGSIAP RGISAWQRPP RGRGRLWPEP
1110 1120 1130 1140 1150
ENWQHPGRGQ WPPEPGLRQS QHPYSVAPAG HGFGRGQHFH RDSCPHQALL
1160 1170 1180 1190 1200
RHLESLATMS HQLQALLCPQ TKSSIPRPLQ RLSSALAAPE PPGPARDSSL
1210
GPTDEAGSEC PFPRKA
Length:1,216
Mass (Da):130,027
Last modified:July 5, 2004 - v1
Checksum:i6887432C45E232DD
GO
Isoform 2 (identifier: Q6ZMY3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     987-999: Missing.

Note: No experimental confirmation available.
Show »
Length:1,203
Mass (Da):128,696
Checksum:i3E5A926523488717
GO
Isoform 3 (identifier: Q6ZMY3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-507: Missing.
     987-999: Missing.

Note: No experimental confirmation available.
Show »
Length:696
Mass (Da):76,557
Checksum:i2FA58952EFD93DFA
GO
Isoform 4 (identifier: Q6ZMY3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-656: Missing.
     657-676: GRYKTKYRSLLFNLRDPRNL → MLGWGSSFSVWCSPAPCPHQ
     758-788: GPQMFMDCSPQALPIASEDTTGQHDHHFLDP → VKLEPDLVLGRAHAWGSHASPHQQCGLGHVT
     789-1216: Missing.

Note: No experimental confirmation available.
Show »
Length:132
Mass (Da):14,920
Checksum:i33272EE51E9E44E9
GO
Isoform 5 (identifier: Q6ZMY3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     476-534: Missing.
     596-603: QLQQEKPS → FGSSRTQC
     604-1216: Missing.

Note: No experimental confirmation available.
Show »
Length:544
Mass (Da):55,893
Checksum:i259FFF524525EE0E
GO

Sequence cautioni

The sequence AAH39870.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB71652.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAC04981.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti549 – 5491G → D in BAC04981 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti109 – 1091T → A.1 Publication
Corresponds to variant rs6664445 [ dbSNP | Ensembl ].
VAR_051379
Natural varianti436 – 4361R → W.
Corresponds to variant rs6669563 [ dbSNP | Ensembl ].
VAR_051380
Natural varianti671 – 6711R → W in a breast cancer sample; somatic mutation. 1 Publication
VAR_035660

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 656656Missing in isoform 4. 1 PublicationVSP_025489Add
BLAST
Alternative sequencei1 – 507507Missing in isoform 3. 1 PublicationVSP_025490Add
BLAST
Alternative sequencei476 – 53459Missing in isoform 5. 1 PublicationVSP_025491Add
BLAST
Alternative sequencei596 – 6038QLQQEKPS → FGSSRTQC in isoform 5. 1 PublicationVSP_025492
Alternative sequencei604 – 1216613Missing in isoform 5. 1 PublicationVSP_025493Add
BLAST
Alternative sequencei657 – 67620GRYKT…DPRNL → MLGWGSSFSVWCSPAPCPHQ in isoform 4. 1 PublicationVSP_025494Add
BLAST
Alternative sequencei758 – 78831GPQMF…HFLDP → VKLEPDLVLGRAHAWGSHAS PHQQCGLGHVT in isoform 4. 1 PublicationVSP_025495Add
BLAST
Alternative sequencei789 – 1216428Missing in isoform 4. 1 PublicationVSP_025496Add
BLAST
Alternative sequencei987 – 99913Missing in isoform 2 and isoform 3. 2 PublicationsVSP_025497Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK058077 mRNA. Translation: BAB71652.1. Different initiation.
AK091016 mRNA. Translation: BAC03567.1.
AK096192 mRNA. Translation: BAC04722.1.
AK097227 mRNA. Translation: BAC04981.1. Different initiation.
AK131447 mRNA. Translation: BAD18592.1.
AL354919 Genomic DNA. Translation: CAI16892.1.
BC039870 mRNA. Translation: AAH39870.1. Different initiation.
BC114430 mRNA. Translation: AAI14431.1.
CCDSiCCDS347.1. [Q6ZMY3-1]
CCDS60066.1. [Q6ZMY3-2]
CCDS72748.1. [Q6ZMY3-3]
RefSeqiNP_001268916.1. NM_001281987.1. [Q6ZMY3-2]
NP_001268917.1. NM_001281988.1. [Q6ZMY3-3]
NP_653170.3. NM_144569.5. [Q6ZMY3-1]
XP_011540709.1. XM_011542407.1. [Q6ZMY3-2]
XP_011540715.1. XM_011542413.1. [Q6ZMY3-3]
XP_011540716.1. XM_011542414.1. [Q6ZMY3-3]
UniGeneiHs.62604.

Genome annotation databases

EnsembliENST00000257100; ENSP00000257100; ENSG00000134668. [Q6ZMY3-3]
ENST00000360482; ENSP00000353670; ENSG00000134668. [Q6ZMY3-1]
ENST00000533231; ENSP00000435851; ENSG00000134668. [Q6ZMY3-2]
GeneIDi90853.
KEGGihsa:90853.
UCSCiuc001bts.3. human. [Q6ZMY3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK058077 mRNA. Translation: BAB71652.1. Different initiation.
AK091016 mRNA. Translation: BAC03567.1.
AK096192 mRNA. Translation: BAC04722.1.
AK097227 mRNA. Translation: BAC04981.1. Different initiation.
AK131447 mRNA. Translation: BAD18592.1.
AL354919 Genomic DNA. Translation: CAI16892.1.
BC039870 mRNA. Translation: AAH39870.1. Different initiation.
BC114430 mRNA. Translation: AAI14431.1.
CCDSiCCDS347.1. [Q6ZMY3-1]
CCDS60066.1. [Q6ZMY3-2]
CCDS72748.1. [Q6ZMY3-3]
RefSeqiNP_001268916.1. NM_001281987.1. [Q6ZMY3-2]
NP_001268917.1. NM_001281988.1. [Q6ZMY3-3]
NP_653170.3. NM_144569.5. [Q6ZMY3-1]
XP_011540709.1. XM_011542407.1. [Q6ZMY3-2]
XP_011540715.1. XM_011542413.1. [Q6ZMY3-3]
XP_011540716.1. XM_011542414.1. [Q6ZMY3-3]
UniGeneiHs.62604.

3D structure databases

ProteinModelPortaliQ6ZMY3.
SMRiQ6ZMY3. Positions 608-709.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124772. 2 interactions.
IntActiQ6ZMY3. 2 interactions.
STRINGi9606.ENSP00000353670.

PTM databases

iPTMnetiQ6ZMY3.

Polymorphism and mutation databases

BioMutaiSPOCD1.
DMDMi74749560.

Proteomic databases

EPDiQ6ZMY3.
PaxDbiQ6ZMY3.
PeptideAtlasiQ6ZMY3.
PRIDEiQ6ZMY3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000257100; ENSP00000257100; ENSG00000134668. [Q6ZMY3-3]
ENST00000360482; ENSP00000353670; ENSG00000134668. [Q6ZMY3-1]
ENST00000533231; ENSP00000435851; ENSG00000134668. [Q6ZMY3-2]
GeneIDi90853.
KEGGihsa:90853.
UCSCiuc001bts.3. human. [Q6ZMY3-1]

Organism-specific databases

CTDi90853.
GeneCardsiSPOCD1.
H-InvDBHIX0018138.
HGNCiHGNC:26338. SPOCD1.
HPAiHPA031713.
HPA031715.
neXtProtiNX_Q6ZMY3.
PharmGKBiPA134930231.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1634. Eukaryota.
ENOG410ZCN4. LUCA.
GeneTreeiENSGT00530000063844.
InParanoidiQ6ZMY3.
KOiK17596.
OMAiHGVKLVC.
OrthoDBiEOG7W41B0.
PhylomeDBiQ6ZMY3.
TreeFamiTF350578.

Miscellaneous databases

ChiTaRSiSPOCD1. human.
GenomeRNAii90853.
PROiQ6ZMY3.

Gene expression databases

BgeeiQ6ZMY3.
CleanExiHS_SPOCD1.
ExpressionAtlasiQ6ZMY3. baseline and differential.
GenevisibleiQ6ZMY3. HS.

Family and domain databases

Gene3Di1.10.472.30. 1 hit.
InterProiIPR012921. SPOC_C.
IPR003618. TFIIS_cen_dom.
[Graphical view]
PfamiPF07744. SPOC. 1 hit.
PF07500. TFIIS_M. 1 hit.
[Graphical view]
SMARTiSM00510. TFS2M. 1 hit.
[Graphical view]
SUPFAMiSSF46942. SSF46942. 1 hit.
PROSITEiPS51321. TFIIS_CENTRAL. 1 hit.
[Graphical view]
ProtoNetiSearch...

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 1; 3 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 403-1216 (ISOFORM 5).
    Tissue: Brain, Spleen and Testis.
  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. "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 2), VARIANT ALA-109.
    Tissue: Brain.
  4. Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-671.

Entry informationi

Entry nameiSPOC1_HUMAN
AccessioniPrimary (citable) accession number: Q6ZMY3
Secondary accession number(s): Q24JU3
, Q6PI90, Q8N869, Q8N8U0, Q8NBC6, Q96LN6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: July 5, 2004
Last modified: July 6, 2016
This is version 95 of the entry and version 1 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.