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Protein

Muskelin

Gene

MKLN1

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

Functioni

Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1.By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Muskelin
Gene namesi
Name:MKLN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:7109. MKLN1.

Subcellular locationi

  • Cytoplasm By similarity
  • Cell projectionruffle By similarity
  • Cytoplasmcell cortex By similarity

  • Note: Colocalizes with actin fibers in the cell cortex.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30828.

Polymorphism and mutation databases

BioMutaiMKLN1.
DMDMi23821862.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 735734MuskelinPRO_0000119138Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9UL63.
MaxQBiQ9UL63.
PaxDbiQ9UL63.
PRIDEiQ9UL63.

PTM databases

iPTMnetiQ9UL63.
PhosphoSiteiQ9UL63.

Expressioni

Gene expression databases

BgeeiQ9UL63.
CleanExiHS_MKLN1.
ExpressionAtlasiQ9UL63. baseline and differential.
GenevisibleiQ9UL63. HS.

Organism-specific databases

HPAiHPA022817.

Interactioni

Subunit structurei

Interacts with the C-terminal tail of the prostaglandin EP3 receptor alpha isoform (By similarity). Interacts with RANBP9. Part of a complex consisting of RANBP9, MKLN1 and GID8.By similarity1 Publication

Protein-protein interaction databases

BioGridi110435. 40 interactions.
IntActiQ9UL63. 6 interactions.
STRINGi9606.ENSP00000323527.

Structurei

3D structure databases

ProteinModelPortaliQ9UL63.
SMRiQ9UL63. Positions 12-188, 632-666.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini172 – 20433LisHPROSITE-ProRule annotationAdd
BLAST
Domaini206 – 25853CTLHPROSITE-ProRule annotationAdd
BLAST
Repeati284 – 33047Kelch 1Add
BLAST
Repeati339 – 39153Kelch 2Add
BLAST
Repeati408 – 45851Kelch 3Add
BLAST
Repeati469 – 51547Kelch 4Add
BLAST
Repeati526 – 57853Kelch 5Add
BLAST
Repeati597 – 65155Kelch 6Add
BLAST

Sequence similaritiesi

Contains 1 CTLH domain.PROSITE-ProRule annotation
Contains 6 Kelch repeats.Curated
Contains 1 LisH domain.PROSITE-ProRule annotation

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG2437. Eukaryota.
ENOG410YJKC. LUCA.
GeneTreeiENSGT00390000001702.
HOGENOMiHOG000047912.
HOVERGENiHBG052481.
InParanoidiQ9UL63.
OMAiNFHKLAS.
PhylomeDBiQ9UL63.
TreeFamiTF323659.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
2.60.120.260. 1 hit.
InterProiIPR006595. CTLH_C.
IPR011043. Gal_Oxase/kelch_b-propeller.
IPR008979. Galactose-bd-like.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR006594. LisH.
IPR010565. Muskelin_N.
[Graphical view]
PfamiPF01344. Kelch_1. 1 hit.
PF06588. Muskelin_N. 1 hit.
[Graphical view]
SMARTiSM00667. LisH. 1 hit.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 1 hit.
SSF50965. SSF50965. 1 hit.
PROSITEiPS50897. CTLH. 1 hit.
PS50896. LISH. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UL63-1) [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
MAAGGAVAAA PECRLLPYAL HKWSSFSSTY LPENILVDKP NDQSSRWSSE
60 70 80 90 100
SNYPPQYLIL KLERPAIVQN ITFGKYEKTH VCNLKKFKVF GGMNEENMTE
110 120 130 140 150
LLSSGLKNDY NKETFTLKHK IDEQMFPCRF IKIVPLLSWG PSFNFSIWYV
160 170 180 190 200
ELSGIDDPDI VQPCLNWYSK YREQEAIRLC LKHFRQHNYT EAFESLQKKT
210 220 230 240 250
KIALEHPMLT DIHDKLVLKG DFDACEELIE KAVNDGLFNQ YISQQEYKPR
260 270 280 290 300
WSQIIPKSTK GDGEDNRPGM RGGHQMVIDV QTETVYLFGG WDGTQDLADF
310 320 330 340 350
WAYSVKENQW TCISRDTEKE NGPSARSCHK MCIDIQRRQI YTLGRYLDSS
360 370 380 390 400
VRNSKSLKSD FYRYDIDTNT WMLLSEDTAA DGGPKLVFDH QMCMDSEKHM
410 420 430 440 450
IYTFGGRILT CNGSVDDSRA SEPQFSGLFA FNCQCQTWKL LREDSCNAGP
460 470 480 490 500
EDIQSRIGHC MLFHSKNRCL YVFGGQRSKT YLNDFFSYDV DSDHVDIISD
510 520 530 540 550
GTKKDSGMVP MTGFTQRATI DPELNEIHVL SGLSKDKEKR EENVRNSFWI
560 570 580 590 600
YDIVRNSWSC VYKNDQAAKD NPTKSLQEEE PCPRFAHQLV YDELHKVHYL
610 620 630 640 650
FGGNPGKSCS PKMRLDDFWS LKLCRPSKDY LLRHCKYLIR KHRFEEKAQV
660 670 680 690 700
DPLSALKYLQ NDLYITVDHS DPEETKEFQL LASALFKSGS DFTALGFSDV
710 720 730
DHTYAQRTQL FDTLVNFFPD SMTPPKGNLV DLITL
Length:735
Mass (Da):84,768
Last modified:October 10, 2002 - v2
Checksum:i1A8F06FE1DE9193D
GO
Isoform 2 (identifier: Q9UL63-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-207: Missing.

Note: No experimental confirmation available.
Show »
Length:528
Mass (Da):60,739
Checksum:i5A40ACB19A54A58E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti6 – 61A → M in AAF06698 (PubMed:10640805).Curated
Sequence conflicti111 – 1111N → Y in AAF06698 (PubMed:10640805).Curated
Sequence conflicti408 – 4081I → N in AAF06698 (PubMed:10640805).Curated
Sequence conflicti414 – 4141S → G in AAF06698 (PubMed:10640805).Curated
Sequence conflicti436 – 4361Q → K in AAF06698 (PubMed:10640805).Curated
Sequence conflicti474 – 4741G → A in AAF06698 (PubMed:10640805).Curated
Sequence conflicti502 – 5021T → N in AAF06698 (PubMed:10640805).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti469 – 4691C → G.
Corresponds to variant rs323844 [ dbSNP | Ensembl ].
VAR_050057

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 207207Missing in isoform 2. 1 PublicationVSP_021852Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF047489 mRNA. Translation: AAF06698.1.
AK002024 mRNA. Translation: BAA92042.1.
AC018642 Genomic DNA. No translation available.
CH236950 Genomic DNA. Translation: EAL24081.1.
CH471070 Genomic DNA. Translation: EAW83782.1.
BC002834 mRNA. Translation: AAH02834.2.
BC067825 mRNA. Translation: AAH67825.1.
AL162071 mRNA. Translation: CAB82407.1.
CCDSiCCDS34754.1. [Q9UL63-1]
PIRiT47173.
RefSeqiNP_001138826.1. NM_001145354.1.
NP_037387.2. NM_013255.4. [Q9UL63-1]
XP_005250413.1. XM_005250356.1. [Q9UL63-2]
UniGeneiHs.44693.

Genome annotation databases

EnsembliENST00000352689; ENSP00000323527; ENSG00000128585. [Q9UL63-1]
GeneIDi4289.
KEGGihsa:4289.
UCSCiuc011kpm.3. human. [Q9UL63-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF047489 mRNA. Translation: AAF06698.1.
AK002024 mRNA. Translation: BAA92042.1.
AC018642 Genomic DNA. No translation available.
CH236950 Genomic DNA. Translation: EAL24081.1.
CH471070 Genomic DNA. Translation: EAW83782.1.
BC002834 mRNA. Translation: AAH02834.2.
BC067825 mRNA. Translation: AAH67825.1.
AL162071 mRNA. Translation: CAB82407.1.
CCDSiCCDS34754.1. [Q9UL63-1]
PIRiT47173.
RefSeqiNP_001138826.1. NM_001145354.1.
NP_037387.2. NM_013255.4. [Q9UL63-1]
XP_005250413.1. XM_005250356.1. [Q9UL63-2]
UniGeneiHs.44693.

3D structure databases

ProteinModelPortaliQ9UL63.
SMRiQ9UL63. Positions 12-188, 632-666.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110435. 40 interactions.
IntActiQ9UL63. 6 interactions.
STRINGi9606.ENSP00000323527.

PTM databases

iPTMnetiQ9UL63.
PhosphoSiteiQ9UL63.

Polymorphism and mutation databases

BioMutaiMKLN1.
DMDMi23821862.

Proteomic databases

EPDiQ9UL63.
MaxQBiQ9UL63.
PaxDbiQ9UL63.
PRIDEiQ9UL63.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000352689; ENSP00000323527; ENSG00000128585. [Q9UL63-1]
GeneIDi4289.
KEGGihsa:4289.
UCSCiuc011kpm.3. human. [Q9UL63-1]

Organism-specific databases

CTDi4289.
GeneCardsiMKLN1.
HGNCiHGNC:7109. MKLN1.
HPAiHPA022817.
MIMi605623. gene.
neXtProtiNX_Q9UL63.
PharmGKBiPA30828.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2437. Eukaryota.
ENOG410YJKC. LUCA.
GeneTreeiENSGT00390000001702.
HOGENOMiHOG000047912.
HOVERGENiHBG052481.
InParanoidiQ9UL63.
OMAiNFHKLAS.
PhylomeDBiQ9UL63.
TreeFamiTF323659.

Miscellaneous databases

ChiTaRSiMKLN1. human.
GeneWikiiMKLN1.
GenomeRNAii4289.
NextBioi16885.
PROiQ9UL63.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UL63.
CleanExiHS_MKLN1.
ExpressionAtlasiQ9UL63. baseline and differential.
GenevisibleiQ9UL63. HS.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
2.60.120.260. 1 hit.
InterProiIPR006595. CTLH_C.
IPR011043. Gal_Oxase/kelch_b-propeller.
IPR008979. Galactose-bd-like.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR006594. LisH.
IPR010565. Muskelin_N.
[Graphical view]
PfamiPF01344. Kelch_1. 1 hit.
PF06588. Muskelin_N. 1 hit.
[Graphical view]
SMARTiSM00667. LisH. 1 hit.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 1 hit.
SSF50965. SSF50965. 1 hit.
PROSITEiPS50897. CTLH. 1 hit.
PS50896. LISH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "cDNA cloning of human muskelin and localisation of the muskelin (MKLN1) gene to human chromosome 7q32 and mouse chromosome 6 B1/B2 by physical mapping and FISH."
    Adams J.C., Zhang L.
    Cytogenet. Cell Genet. 87:19-21(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Brain, Kidney, Lung and Osteosarcoma.
  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] (ISOFORM 2).
    Tissue: Placenta.
  3. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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 1).
    Tissue: Testis and Uterus.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 320-735.
    Tissue: Melanoma.
  8. "A novel nuclear protein, Twa1, and Muskelin comprise a complex with RanBPM."
    Umeda M., Nishitani H., Nishimoto T.
    Gene 303:47-54(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RANBP9, IDENTIFICATION IN A COMPLEX WITH RANBP9 AND GID8.
  9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiMKLN1_HUMAN
AccessioniPrimary (citable) accession number: Q9UL63
Secondary accession number(s): A4D1M8
, A6NG43, Q9NSK4, Q9NUS8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 10, 2002
Last modified: May 11, 2016
This is version 141 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 7
    Human chromosome 7: 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.