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Protein

Germ cell-specific gene 1 protein

Gene

GSG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May cause the redistribution of PAPOLB from the cytosol to the endoplasmic reticulum.By similarity

Protein family/group databases

TCDBi8.A.16.5.1. the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Germ cell-specific gene 1 protein
Gene namesi
Name:GSG1
ORF Names:UNQ709/PRO1360
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:19716. GSG1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei20 – 4021HelicalSequence analysisAdd
BLAST
Transmembranei158 – 17821HelicalSequence analysisAdd
BLAST
Transmembranei189 – 20921HelicalSequence analysisAdd
BLAST
Transmembranei233 – 25321HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134868096.

Polymorphism and mutation databases

BioMutaiGSG1.
DMDMi187471163.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 349349Germ cell-specific gene 1 proteinPRO_0000329461Add
BLAST

Proteomic databases

PRIDEiQ2KHT4.

PTM databases

PhosphoSiteiQ2KHT4.

Expressioni

Gene expression databases

BgeeiQ2KHT4.
CleanExiHS_GSG1.
ExpressionAtlasiQ2KHT4. baseline and differential.
GenevisibleiQ2KHT4. HS.

Organism-specific databases

HPAiHPA043371.

Interactioni

Subunit structurei

Interacts with PAPOLB.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
TRAF2Q129333EBI-10239244,EBI-355744

Protein-protein interaction databases

BioGridi123647. 3 interactions.
IntActiQ2KHT4. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ2KHT4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GSG1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00390000011933.
HOVERGENiHBG069545.
InParanoidiQ2KHT4.
OMAiQVFQATA.
OrthoDBiEOG715Q4M.
PhylomeDBiQ2KHT4.
TreeFamiTF331388.

Family and domain databases

InterProiIPR012478. GSG-1.
[Graphical view]
PfamiPF07803. GSG-1. 1 hit.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q2KHT4-1) [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
MAKMELSKAF SGQRTLLSAI LSMLSLSFST TSLLSNYWFV GTQKVPKPLC
60 70 80 90 100
EKGLAAKCFD MPVSLDGDTN TSTQEVVQYN WETGDDRFSF RSFRSGMWLS
110 120 130 140 150
CEETVEEPAL LHPQSWKQFR ALRSSGTAAA KGERCRSFIE LTPPAKREIL
160 170 180 190 200
WLSLGTQITY IGLQFISFLL LLTDLLLTGN PACGLKLSAF AAVSSVLSGL
210 220 230 240 250
LGMVAHMMYS QVFQATVNLG PEDWRPHVWN YGWAFYMAWL SFTCCMASAV
260 270 280 290 300
TTFNTYTRMV LEFKCKHSKS FKENPNCLPH HHQCFPRRLS SAAPTVGPLT
310 320 330 340
SYHQYHNQPI HSVSEGVDFY SELRNKGFQR GASQELKEAV RSSVEEEQC
Length:349
Mass (Da):39,248
Last modified:April 29, 2008 - v2
Checksum:i72AB9D98344023B5
GO
Isoform 2 (identifier: Q2KHT4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     148-198: Missing.

Show »
Length:298
Mass (Da):33,840
Checksum:i0CB417944048E315
GO
Isoform 3 (identifier: Q2KHT4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-131: Missing.

Show »
Length:326
Mass (Da):36,741
Checksum:iF5AA8020EDE0FDB0
GO
Isoform 4 (identifier: Q2KHT4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-131: Missing.
     148-349: EILWLSLGTQ...VRSSVEEEQC → GEKGLLEFAT...QDGAGVQVQA

Show »
Length:285
Mass (Da):31,433
Checksum:i639013F67BC7F765
GO
Isoform 5 (identifier: Q2KHT4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-131: Missing.
     148-198: Missing.

Show »
Length:275
Mass (Da):31,333
Checksum:iB16F6063537A40F3
GO
Isoform 6 (identifier: Q2KHT4-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3: MAK → MSDPSQLTQNVCLTQE
     109-131: Missing.

Show »
Length:339
Mass (Da):38,187
Checksum:i5C9479746CB61CE1
GO
Isoform 7 (identifier: Q2KHT4-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3: MAK → MSDPSQLTQNVCLTQE
     148-349: EILWLSLGTQ...VRSSVEEEQC → GEKGLLEFAT...VQVQPPPWVL

Show »
Length:326
Mass (Da):36,004
Checksum:iAE22B4CA249971CD
GO
Isoform 8 (identifier: Q2KHT4-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-131: Missing.
     148-280: EILWLSLGTQ...FKENPNCLPH → GEKGLLEFAT...GVGCHHLQHV

Show »
Length:343
Mass (Da):38,155
Checksum:iF71938F7435C3FC2
GO

Sequence cautioni

The sequence AAH01796.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAH33854.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti32 – 321S → P in BAC11548 (PubMed:14702039).Curated
Sequence conflicti259 – 2591M → V in BAC11540 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391F → L.1 Publication
Corresponds to variant rs2306765 [ dbSNP | Ensembl ].
VAR_042684
Natural varianti67 – 671G → V.
Corresponds to variant rs11546332 [ dbSNP | Ensembl ].
VAR_042685

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 33MAK → MSDPSQLTQNVCLTQE in isoform 6 and isoform 7. 2 PublicationsVSP_032992
Alternative sequencei109 – 13123Missing in isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 3 PublicationsVSP_032993Add
BLAST
Alternative sequencei148 – 349202EILWL…EEEQC → GEKGLLEFATLQGPCHPTLR FGGKRLMEKASLPSPPLGLC GKNPMVIPGNADHLHRTSIH QLPPATNRLATHWEPCLWAQ TERLCCCFLCPVRSPGDGGP HDVFTSLPSDCQLGSRRLET TCLELWLGLLHGLALLHLLH GVGCHHLQHVHQDGAGVQVQ A in isoform 4. 3 PublicationsVSP_032994Add
BLAST
Alternative sequencei148 – 349202EILWL…EEEQC → GEKGLLEFATLQGPCHPTLR FGGKRLMEKASLPSPPLGLC GKNPMVIPGNADHLHRTSIH QLPPATNRLATHWEPCLWAQ TERLCCCFLCPVRSPGDGGP HDVFTSLPSDCQLGSRRLET TCLELWLGLLHGLALLHLLH GVGCHHLQHVHQDGAGVQVQ PPPWVL in isoform 7. 1 PublicationVSP_032995Add
BLAST
Alternative sequencei148 – 280133EILWL…NCLPH → GEKGLLEFATLQGPCHPTLR FGGKRLMEKASLPSPPLGLC GKNPMVIPGNADHLHRTSTH QLPPATNRLATHWEPCLWAQ TERLCCCFLCPVRSPGDGGP HDVFTSLPSDCQLGSRRLET TCLELWLGLLHGLALLHLLH GVGCHHLQHV in isoform 8. 1 PublicationVSP_032996Add
BLAST
Alternative sequencei148 – 19851Missing in isoform 2 and isoform 5. 2 PublicationsVSP_032997Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358513 mRNA. Translation: AAQ88877.1.
AK027894 mRNA. Translation: BAB55437.1.
AK058045 mRNA. Translation: BAB71638.1.
AK075288 mRNA. Translation: BAC11524.1.
AK075311 mRNA. Translation: BAC11540.1.
AK075322 mRNA. Translation: BAC11548.1.
AC023790 Genomic DNA. No translation available.
AC079628 Genomic DNA. No translation available.
CH471094 Genomic DNA. Translation: EAW96299.1.
BC001796 mRNA. Translation: AAH01796.1. Different initiation.
BC033854 mRNA. Translation: AAH33854.1. Different initiation.
BC112896 mRNA. Translation: AAI12897.1.
CCDSiCCDS44835.1. [Q2KHT4-3]
CCDS55806.1. [Q2KHT4-5]
CCDS55807.1. [Q2KHT4-2]
CCDS55808.1. [Q2KHT4-6]
CCDS8659.2. [Q2KHT4-4]
RefSeqiNP_001074023.1. NM_001080554.2.
NP_001193771.1. NM_001206842.1. [Q2KHT4-6]
NP_001193772.1. NM_001206843.1. [Q2KHT4-2]
NP_001193774.1. NM_001206845.1. [Q2KHT4-5]
NP_112579.2. NM_031289.3. [Q2KHT4-4]
UniGeneiHs.240053.

Genome annotation databases

EnsembliENST00000337630; ENSP00000336816; ENSG00000111305. [Q2KHT4-3]
ENST00000396302; ENSP00000379596; ENSG00000111305. [Q2KHT4-4]
ENST00000432710; ENSP00000405032; ENSG00000111305. [Q2KHT4-6]
ENST00000457134; ENSP00000398384; ENSG00000111305. [Q2KHT4-5]
ENST00000537302; ENSP00000441718; ENSG00000111305. [Q2KHT4-2]
GeneIDi83445.
KEGGihsa:83445.
UCSCiuc001rbj.4. human. [Q2KHT4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358513 mRNA. Translation: AAQ88877.1.
AK027894 mRNA. Translation: BAB55437.1.
AK058045 mRNA. Translation: BAB71638.1.
AK075288 mRNA. Translation: BAC11524.1.
AK075311 mRNA. Translation: BAC11540.1.
AK075322 mRNA. Translation: BAC11548.1.
AC023790 Genomic DNA. No translation available.
AC079628 Genomic DNA. No translation available.
CH471094 Genomic DNA. Translation: EAW96299.1.
BC001796 mRNA. Translation: AAH01796.1. Different initiation.
BC033854 mRNA. Translation: AAH33854.1. Different initiation.
BC112896 mRNA. Translation: AAI12897.1.
CCDSiCCDS44835.1. [Q2KHT4-3]
CCDS55806.1. [Q2KHT4-5]
CCDS55807.1. [Q2KHT4-2]
CCDS55808.1. [Q2KHT4-6]
CCDS8659.2. [Q2KHT4-4]
RefSeqiNP_001074023.1. NM_001080554.2.
NP_001193771.1. NM_001206842.1. [Q2KHT4-6]
NP_001193772.1. NM_001206843.1. [Q2KHT4-2]
NP_001193774.1. NM_001206845.1. [Q2KHT4-5]
NP_112579.2. NM_031289.3. [Q2KHT4-4]
UniGeneiHs.240053.

3D structure databases

ProteinModelPortaliQ2KHT4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123647. 3 interactions.
IntActiQ2KHT4. 1 interaction.

Protein family/group databases

TCDBi8.A.16.5.1. the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family.

PTM databases

PhosphoSiteiQ2KHT4.

Polymorphism and mutation databases

BioMutaiGSG1.
DMDMi187471163.

Proteomic databases

PRIDEiQ2KHT4.

Protocols and materials databases

DNASUi83445.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337630; ENSP00000336816; ENSG00000111305. [Q2KHT4-3]
ENST00000396302; ENSP00000379596; ENSG00000111305. [Q2KHT4-4]
ENST00000432710; ENSP00000405032; ENSG00000111305. [Q2KHT4-6]
ENST00000457134; ENSP00000398384; ENSG00000111305. [Q2KHT4-5]
ENST00000537302; ENSP00000441718; ENSG00000111305. [Q2KHT4-2]
GeneIDi83445.
KEGGihsa:83445.
UCSCiuc001rbj.4. human. [Q2KHT4-1]

Organism-specific databases

CTDi83445.
GeneCardsiGSG1.
HGNCiHGNC:19716. GSG1.
HPAiHPA043371.
neXtProtiNX_Q2KHT4.
PharmGKBiPA134868096.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000011933.
HOVERGENiHBG069545.
InParanoidiQ2KHT4.
OMAiQVFQATA.
OrthoDBiEOG715Q4M.
PhylomeDBiQ2KHT4.
TreeFamiTF331388.

Miscellaneous databases

ChiTaRSiGSG1. human.
GenomeRNAii83445.
NextBioi72334.
PROiQ2KHT4.

Gene expression databases

BgeeiQ2KHT4.
CleanExiHS_GSG1.
ExpressionAtlasiQ2KHT4. baseline and differential.
GenevisibleiQ2KHT4. HS.

Family and domain databases

InterProiIPR012478. GSG-1.
[Graphical view]
PfamiPF07803. GSG-1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
  2. "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 3; 4; 5; 7 AND 8).
    Tissue: Retinoblastoma and Testis.
  3. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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] (ISOFORMS 2; 4 AND 6), VARIANT LEU-39.
    Tissue: Brain and Eye.

Entry informationi

Entry nameiGSG1_HUMAN
AccessioniPrimary (citable) accession number: Q2KHT4
Secondary accession number(s): Q8N4M3
, Q8NBR4, Q8NBS0, Q8NBT1, Q96LP9, Q96SI6, Q9BUY4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: April 29, 2008
Last modified: March 16, 2016
This is version 75 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 12
    Human chromosome 12: 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.