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Protein

ALS2 C-terminal-like protein

Gene

ALS2CL

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

Functioni

Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics.3 Publications

GO - Molecular functioni

GO - Biological processi

  • endosome organization Source: MGI
  • regulation of Rho protein signal transduction Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
ALS2 C-terminal-like protein
Gene namesi
Name:ALS2CL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:20605. ALS2CL.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134949717.

Polymorphism and mutation databases

BioMutaiALS2CL.
DMDMi74708351.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 953953ALS2 C-terminal-like proteinPRO_0000313849Add
BLAST

Proteomic databases

EPDiQ60I27.
MaxQBiQ60I27.
PaxDbiQ60I27.
PRIDEiQ60I27.

PTM databases

iPTMnetiQ60I27.
PhosphoSiteiQ60I27.

Expressioni

Tissue specificityi

Expressed in heart and kidney.1 Publication

Gene expression databases

BgeeiQ60I27.
CleanExiHS_ALS2CL.
ExpressionAtlasiQ60I27. baseline and differential.
GenevisibleiQ60I27. HS.

Organism-specific databases

HPAiCAB046465.
HPA048301.

Interactioni

Subunit structurei

Homodimer. Forms a heteromeric complex with ALS2 (By similarity). Interacts with ALS2 and RAB5A.By similarity2 Publications

GO - Molecular functioni

  • identical protein binding Source: MGI

Protein-protein interaction databases

BioGridi129223. 1 interaction.
STRINGi9606.ENSP00000313670.

Structurei

3D structure databases

ProteinModelPortaliQ60I27.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati358 – 38023MORN 1Add
BLAST
Repeati381 – 40323MORN 2Add
BLAST
Repeati409 – 43123MORN 3Add
BLAST
Repeati432 – 45221MORN 4Add
BLAST
Repeati459 – 47921MORN 5Add
BLAST
Repeati483 – 50523MORN 6Add
BLAST
Repeati506 – 52823MORN 7Add
BLAST
Repeati529 – 55224MORN 8Add
BLAST
Domaini796 – 942147VPS9PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 8 MORN repeats.Curated
Contains 1 VPS9 domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0231. Eukaryota.
COG4642. LUCA.
GeneTreeiENSGT00730000110297.
HOGENOMiHOG000148768.
HOVERGENiHBG097441.
InParanoidiQ60I27.
OMAiYEGTFTR.
OrthoDBiEOG7C5M7B.
PhylomeDBiQ60I27.
TreeFamiTF331793.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
InterProiIPR000219. DH-domain.
IPR003409. MORN.
IPR003123. VPS9.
[Graphical view]
PfamiPF02493. MORN. 7 hits.
PF02204. VPS9. 1 hit.
[Graphical view]
SMARTiSM00698. MORN. 7 hits.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
PROSITEiPS51205. VPS9. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q60I27-1) [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
MCNPEEAALL RLEEVFSATL AHVNSLVLQP LLPAAPDPSD PWGRECLRLL
60 70 80 90 100
QQLHKSSQQL WEVTEESLHS LQERLRYPDS TGLESLLLLR GADRVLQAHI
110 120 130 140 150
EYIESYTSCM VVQAFQKAAK RRSEYWRGQR KALRQLLSGV SSEGSVGASL
160 170 180 190 200
GQALHQPLAH HVQQYVLLLL SLGDTIGEHH PTRELVVNAV TLFGNLQSFM
210 220 230 240 250
KQELDQAVAT QALWHTLRGR LRDVLCTPAH RLLQDSQDVP VTVAPLRAER
260 270 280 290 300
VLLFDDALVL LQGHNVHTFD LKLVWVDPGQ DGCTFHLLTP EEEFSFCAKD
310 320 330 340 350
SQGQAVWQWK VTWAVHQALH GKKDFPVLGA GLEPSQPPDC RCAEYTFQAE
360 370 380 390 400
GRLCQATYEG EWCRGRPHGK GTLKWPDGRN HVGNFCQGLE HGFGIRLLPQ
410 420 430 440 450
ASEDKFDCYK CHWREGSMCG YGICEYSTDE VYKGYFQEGL RHGFGVLESG
460 470 480 490 500
PQAPQPFRYT GHWERGQRSG YGIEEDGDRG ERYIGMWQAG QRHGPGVMVT
510 520 530 540 550
QAGVCYQGTF QADKTVGPGI LLSEDDSLYE GTFTRDLTLM GKGKVTFPNG
560 570 580 590 600
FTLEGSFGSG AGRGLHTQGV LDTAALPPDP SSTCKRQLGV GAFPVESRWQ
610 620 630 640 650
GVYSPFRDFV CAGCPRDLQE ALLGFDVQSS RELRRSQDYL SCERTHPEDS
660 670 680 690 700
VGSMEDILEE LLQHREPKAL QLYLRKALSN SLHPLGKLLR TLMLTFQATY
710 720 730 740 750
AGVGANKHLQ ELAQEEVKQH AQELWAAYRG LLRVALERKG QALEEDEDTE
760 770 780 790 800
TRDLQVHGLV LPLMLPSFYS ELFTLYLLLH EREDSFYSQG IANLSLFPDT
810 820 830 840 850
QLLEFLDVQK HLWPLKDLTL TSNQRYSLVR DKCFLSATEC LQKIMTTVDP
860 870 880 890 900
REKLEVLERT YGEIEGTVSR VLGREYKLPM DDLLPLLIYV VSRARIQHLG
910 920 930 940 950
AEIHLIRDMM DPNHTGGLYD FLLTALESCY EHIQKEDMRL HRLPGHWHSR

ELW
Length:953
Mass (Da):107,748
Last modified:November 23, 2004 - v1
Checksum:i1BBC38A16E6A1168
GO
Isoform 2 (identifier: Q60I27-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-199: Missing.

Note: No experimental confirmation available.
Show »
Length:754
Mass (Da):85,486
Checksum:i16CC02DED68F8FBD
GO
Isoform 3 (identifier: Q60I27-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-485: Missing.

Note: No experimental confirmation available.
Show »
Length:468
Mass (Da):53,078
Checksum:i4CB253A0BCBE0773
GO
Isoform 4 (identifier: Q60I27-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-763: Missing.
     896-953: IQHLGAEIHL...PGHWHSRELW → WGSQGPEKGG...APGSRDPPDP

Note: No experimental confirmation available.
Show »
Length:205
Mass (Da):23,054
Checksum:i2801624E1A7964C2
GO
Isoform 5 (identifier: Q60I27-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-763: Missing.

Show »
Length:190
Mass (Da):22,425
Checksum:iD905F5101A2A5596
GO
Isoform 6 (identifier: Q60I27-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-653: Missing.

Show »
Length:300
Mass (Da):34,998
Checksum:i175FBE758A6FFF07
GO

Sequence cautioni

The sequence BAD18450.1 differs from that shown. Reason: Frameshift at position 878. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti172 – 1721L → P in BAD18448 (PubMed:14702039).Curated
Sequence conflicti430 – 4301E → G in BAD18448 (PubMed:14702039).Curated
Sequence conflicti711 – 7111E → G in BAD18450 (PubMed:14702039).Curated
Sequence conflicti893 – 8931R → H in BAD18448 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti29 – 291Q → R.
Corresponds to variant rs59661801 [ dbSNP | Ensembl ].
VAR_061554
Natural varianti45 – 451E → Q.1 Publication
Corresponds to variant rs7642448 [ dbSNP | Ensembl ].
VAR_037791
Natural varianti280 – 2801Q → E in a breast cancer sample; somatic mutation. 1 Publication
VAR_037792
Natural varianti576 – 5761L → F in a breast cancer sample; somatic mutation. 1 Publication
VAR_037793

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 763763Missing in isoform 4 and isoform 5. 2 PublicationsVSP_030168Add
BLAST
Alternative sequencei1 – 653653Missing in isoform 6. 1 PublicationVSP_043859Add
BLAST
Alternative sequencei1 – 485485Missing in isoform 3. 1 PublicationVSP_030169Add
BLAST
Alternative sequencei1 – 199199Missing in isoform 2. 1 PublicationVSP_030170Add
BLAST
Alternative sequencei896 – 95358IQHLG…SRELW → WGSQGPEKGGSQPGCWGARG RVRTTPQVSSHPGQRSFPSC LSATGLFSLSPSLSWWGGVL QNSAPGSRDPPDP in isoform 4. 1 PublicationVSP_030171Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB107015 mRNA. Translation: BAD51817.1.
AK092455 mRNA. Translation: BAC03895.1.
AK093844 mRNA. Translation: BAC04237.1.
AK131273 mRNA. Translation: BAD18450.1. Frameshift.
AK131270 mRNA. Translation: BAD18448.1.
AK126505 mRNA. Translation: BAC86572.1.
AC104304 Genomic DNA. No translation available.
AC134504 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64777.1.
BC042906 mRNA. Translation: AAH42906.1.
BC061883 mRNA. Translation: AAH61883.1.
BC075825 mRNA. Translation: AAH75825.1.
BC109233 mRNA. Translation: AAI09234.1.
CR627258 mRNA. Translation: CAH10367.1.
CCDSiCCDS2743.1. [Q60I27-1]
CCDS43080.1. [Q60I27-6]
RefSeqiNP_001177636.1. NM_001190707.1. [Q60I27-1]
NP_667340.2. NM_147129.4. [Q60I27-1]
NP_877576.1. NM_182775.2. [Q60I27-6]
XP_005265082.1. XM_005265025.1. [Q60I27-3]
UniGeneiHs.517937.

Genome annotation databases

EnsembliENST00000318962; ENSP00000313670; ENSG00000178038. [Q60I27-1]
ENST00000383742; ENSP00000373248; ENSG00000178038. [Q60I27-6]
ENST00000415953; ENSP00000413223; ENSG00000178038. [Q60I27-1]
GeneIDi259173.
KEGGihsa:259173.
UCSCiuc003cpx.3. human. [Q60I27-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB107015 mRNA. Translation: BAD51817.1.
AK092455 mRNA. Translation: BAC03895.1.
AK093844 mRNA. Translation: BAC04237.1.
AK131273 mRNA. Translation: BAD18450.1. Frameshift.
AK131270 mRNA. Translation: BAD18448.1.
AK126505 mRNA. Translation: BAC86572.1.
AC104304 Genomic DNA. No translation available.
AC134504 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64777.1.
BC042906 mRNA. Translation: AAH42906.1.
BC061883 mRNA. Translation: AAH61883.1.
BC075825 mRNA. Translation: AAH75825.1.
BC109233 mRNA. Translation: AAI09234.1.
CR627258 mRNA. Translation: CAH10367.1.
CCDSiCCDS2743.1. [Q60I27-1]
CCDS43080.1. [Q60I27-6]
RefSeqiNP_001177636.1. NM_001190707.1. [Q60I27-1]
NP_667340.2. NM_147129.4. [Q60I27-1]
NP_877576.1. NM_182775.2. [Q60I27-6]
XP_005265082.1. XM_005265025.1. [Q60I27-3]
UniGeneiHs.517937.

3D structure databases

ProteinModelPortaliQ60I27.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129223. 1 interaction.
STRINGi9606.ENSP00000313670.

PTM databases

iPTMnetiQ60I27.
PhosphoSiteiQ60I27.

Polymorphism and mutation databases

BioMutaiALS2CL.
DMDMi74708351.

Proteomic databases

EPDiQ60I27.
MaxQBiQ60I27.
PaxDbiQ60I27.
PRIDEiQ60I27.

Protocols and materials databases

DNASUi259173.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318962; ENSP00000313670; ENSG00000178038. [Q60I27-1]
ENST00000383742; ENSP00000373248; ENSG00000178038. [Q60I27-6]
ENST00000415953; ENSP00000413223; ENSG00000178038. [Q60I27-1]
GeneIDi259173.
KEGGihsa:259173.
UCSCiuc003cpx.3. human. [Q60I27-1]

Organism-specific databases

CTDi259173.
GeneCardsiALS2CL.
H-InvDBHIX0119153.
HGNCiHGNC:20605. ALS2CL.
HPAiCAB046465.
HPA048301.
MIMi612402. gene.
neXtProtiNX_Q60I27.
PharmGKBiPA134949717.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0231. Eukaryota.
COG4642. LUCA.
GeneTreeiENSGT00730000110297.
HOGENOMiHOG000148768.
HOVERGENiHBG097441.
InParanoidiQ60I27.
OMAiYEGTFTR.
OrthoDBiEOG7C5M7B.
PhylomeDBiQ60I27.
TreeFamiTF331793.

Miscellaneous databases

GenomeRNAii259173.
NextBioi93040.
PROiQ60I27.
SOURCEiSearch...

Gene expression databases

BgeeiQ60I27.
CleanExiHS_ALS2CL.
ExpressionAtlasiQ60I27. baseline and differential.
GenevisibleiQ60I27. HS.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
InterProiIPR000219. DH-domain.
IPR003409. MORN.
IPR003123. VPS9.
[Graphical view]
PfamiPF02493. MORN. 7 hits.
PF02204. VPS9. 1 hit.
[Graphical view]
SMARTiSM00698. MORN. 7 hits.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
PROSITEiPS51205. VPS9. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics."
    Hadano S., Otomo A., Suzuki-Utsunomiya K., Kunita R., Yanagisawa Y., Showguchi-Miyata J., Mizumura H., Ikeda J.-E.
    FEBS Lett. 575:64-70(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH RAB5A, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Liver.
  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 1; 2; 3; 4 AND 6).
    Tissue: Placenta, Tongue, Trachea and Uterus.
  3. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., 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., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(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] (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 293-953 (ISOFORM 1).
    Tissue: Prostate.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-392 (ISOFORM 1), VARIANT GLN-45.
    Tissue: Cervix.
  7. "Purification and functional analyses of ALS2 and its homologue."
    Hadano S., Ikeda J.-E.
    Methods Enzymol. 403:310-321(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. Cited for: FUNCTION, HOMODIMERIZATION, INTERACTION WITH ALS2, SUBCELLULAR LOCATION.
  9. Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLU-280 AND PHE-576.

Entry informationi

Entry nameiAL2CL_HUMAN
AccessioniPrimary (citable) accession number: Q60I27
Secondary accession number(s): Q32MA1
, Q6AI56, Q6ZNC5, Q6ZNC7, Q6ZTL4, Q86YD2, Q8N9U1, Q8NAL7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 23, 2004
Last modified: May 11, 2016
This is version 92 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 3
    Human chromosome 3: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.