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Protein

Sal-like protein 2

Gene

SALL2

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

Functioni

Probable transcription factor.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri373 – 39523C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri401 – 42323C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri631 – 65323C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri659 – 68123C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri691 – 71323C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri911 – 93323C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri940 – 96425C2H2-type 7PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. eye development Source: UniProtKB
  2. regulation of transcription, DNA-templated Source: UniProtKB-KW
  3. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Sal-like protein 2
Alternative name(s):
Zinc finger protein 795
Zinc finger protein SALL2
Zinc finger protein Spalt-2
Short name:
Sal-2
Short name:
hSal2
Gene namesi
Name:SALL2
Synonyms:KIAA0360, SAL2, ZNF795
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:10526. SALL2.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

Orphaneti194. Ocular coloboma.
PharmGKBiPA34934.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10071007Sal-like protein 2PRO_0000047022Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei243 – 2431Phosphoserine1 Publication
Modified residuei797 – 7971Phosphoserine1 Publication
Modified residuei802 – 8021Phosphoserine2 Publications
Modified residuei806 – 8061Phosphoserine2 Publications
Cross-linki911 – 911Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ9Y467.
PaxDbiQ9Y467.
PeptideAtlasiQ9Y467.
PRIDEiQ9Y467.

PTM databases

PhosphoSiteiQ9Y467.

Expressioni

Tissue specificityi

Highest levels in adult brain (in different areas). Lower levels in heart; very low levels in kidney and pancreas.

Developmental stagei

In fetal brain exclusively in pontine nuclei.

Gene expression databases

BgeeiQ9Y467.
CleanExiHS_SALL2.
GenevestigatoriQ9Y467.

Organism-specific databases

HPAiHPA004162.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NGFRP081383EBI-746180,EBI-1387782

Protein-protein interaction databases

BioGridi112204. 18 interactions.
IntActiQ9Y467. 6 interactions.
MINTiMINT-4658260.
STRINGi9606.ENSP00000333537.

Structurei

3D structure databases

ProteinModelPortaliQ9Y467.
SMRiQ9Y467. Positions 367-423, 621-687, 691-717, 909-971.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi135 – 1395Poly-Gly
Compositional biasi158 – 17013Poly-ProAdd
BLAST
Compositional biasi256 – 26510Poly-Ser
Compositional biasi764 – 77512Poly-GluAdd
BLAST
Compositional biasi816 – 8216Poly-Ala
Compositional biasi838 – 8436Poly-Pro

Sequence similaritiesi

Contains 7 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri373 – 39523C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri401 – 42323C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri631 – 65323C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri659 – 68123C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri691 – 71323C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri911 – 93323C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri940 – 96425C2H2-type 7PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG294998.
GeneTreeiENSGT00550000074555.
HOGENOMiHOG000231986.
HOVERGENiHBG058921.
InParanoidiQ9Y467.
OrthoDBiEOG7353W3.
PhylomeDBiQ9Y467.
TreeFamiTF317003.

Family and domain databases

Gene3Di3.30.160.60. 4 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 7 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 7 hits.
PS50157. ZINC_FINGER_C2H2_2. 7 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y467-1) [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
MSRRKQRKPQ QLISDCEGPS ASENGDASEE DHPQVCAKCC AQFTDPTEFL
60 70 80 90 100
AHQNACSTDP PVMVIIGGQE NPNNSSASSE PRPEGHNNPQ VMDTEHSNPP
110 120 130 140 150
DSGSSVPTDP TWGPERRGEE SPGHFLVAAT GTAAGGGGGL ILASPKLGAT
160 170 180 190 200
PLPPESTPAP PPPPPPPPPP GVGSGHLNIP LILEELRVLQ QRQIHQMQMT
210 220 230 240 250
EQICRQVLLL GSLGQTVGAP ASPSELPGTG TASSTKPLLP LFSPIKPVQT
260 270 280 290 300
SKTLASSSSS SSSSSGAETP KQAFFHLYHP LGSQHPFSAG GVGRSHKPTP
310 320 330 340 350
APSPALPGST DQLIASPHLA FPSTTGLLAA QCLGAARGLE ATASPGLLKP
360 370 380 390 400
KNGSGELSYG EVMGPLEKPG GRHKCRFCAK VFGSDSALQI HLRSHTGERP
410 420 430 440 450
YKCNVCGNRF TTRGNLKVHF HRHREKYPHV QMNPHPVPEH LDYVITSSGL
460 470 480 490 500
PYGMSVPPEK AEEEAATPGG GVERKPLVAS TTALSATESL TLLSTSAGTA
510 520 530 540 550
TAPGLPAFNK FVLMKAVEPK NKADENTPPG SEGSAISGVA ESSTATRMQL
560 570 580 590 600
SKLVTSLPSW ALLTNHFKST GSFPFPYVLE PLGASPSETS KLQQLVEKID
610 620 630 640 650
RQGAVAVTSA ASGAPTTSAP APSSSASSGP NQCVICLRVL SCPRALRLHY
660 670 680 690 700
GQHGGERPFK CKVCGRAFST RGNLRAHFVG HKASPAARAQ NSCPICQKKF
710 720 730 740 750
TNAVTLQQHV RMHLGGQIPN GGTALPEGGG AAQENGSEQS TVSGAGSFPQ
760 770 780 790 800
QQSQQPSPEE ELSEEEEEED EEEEEDVTDE DSLAGRGSES GGEKAISVRG
810 820 830 840 850
DSEEASGAEE EVGTVAAAAT AGKEMDSNEK TTQQSSLPPP PPPDSLDQPQ
860 870 880 890 900
PMEQGSSGVL GGKEEGGKPE RSSSPASALT PEGEATSVTL VEELSLQEAM
910 920 930 940 950
RKEPGESSSR KACEVCGQAF PSQAALEEHQ KTHPKEGPLF TCVFCRQGFL
960 970 980 990 1000
ERATLKKHML LAHHQVQPFA PHGPQNIAAL SLVPGCSPSI TSTGLSPFPR

KDDPTIP
Length:1,007
Mass (Da):105,309
Last modified:May 18, 2010 - v4
Checksum:i9F9335CE7939EFA7
GO
Isoform 2 (identifier: Q9Y467-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: MSRRKQRKPQQLISDCEGPSASEN → MAHESERSSRLGVPCGEPAELG
     131-200: GTAAGGGGGL...QRQIHQMQMT → EPVCGIPVKW...ISASCTQGSA
     201-1007: Missing.

Note: No experimental confirmation available.

Show »
Length:198
Mass (Da):20,919
Checksum:iBD3AA81987D5F875
GO

Sequence cautioni

The sequence BAA21638.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti547 – 5471R → L in X98834. (PubMed:8975705)Curated
Sequence conflicti547 – 5471R → L in AAI36529. (PubMed:15489334)Curated
Sequence conflicti547 – 5471R → L in AAI36530. (PubMed:15489334)Curated
Sequence conflicti554 – 5541V → M in X98834. (PubMed:8975705)Curated
Sequence conflicti575 – 5817FPYVLEP → LPLCARA in X98834. (PubMed:8975705)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti75 – 751S → C.
Corresponds to variant rs2242527 [ dbSNP | Ensembl ].
VAR_014129
Natural varianti122 – 1221P → S.3 Publications
Corresponds to variant rs1263811 [ dbSNP | Ensembl ].
VAR_014130
Natural varianti746 – 7461G → R.3 Publications
Corresponds to variant rs1263810 [ dbSNP | Ensembl ].
VAR_014131

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2424MSRRK…SASEN → MAHESERSSRLGVPCGEPAE LG in isoform 2. 1 PublicationVSP_056251Add
BLAST
Alternative sequencei131 – 20070GTAAG…QMQMT → EPVCGIPVKWPAHEALEFQL HLHYHSKPGPTSAVWPRNCG WEGASNNGIQGSQGEDSPPP ISASCTQGSA in isoform 2. 1 PublicationVSP_056252Add
BLAST
Alternative sequencei201 – 1007807Missing in isoform 2. 1 PublicationVSP_056253Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98834 mRNA. No translation available.
AB002358 mRNA. Translation: BAA21638.2. Different initiation.
AE000521 Genomic DNA. No translation available.
AE000658 Genomic DNA. No translation available.
BC024245 mRNA. Translation: AAH24245.1.
BC090958 mRNA. Translation: AAH90958.1.
BC136528 mRNA. Translation: AAI36529.1.
BC136529 mRNA. Translation: AAI36530.1.
AF465630 mRNA. Translation: AAL74188.1.
CCDSiCCDS32045.1. [Q9Y467-1]
RefSeqiNP_001278375.1. NM_001291446.1.
NP_001278376.1. NM_001291447.1.
NP_005398.2. NM_005407.2.
UniGeneiHs.416358.
Hs.745364.

Genome annotation databases

EnsembliENST00000614342; ENSP00000483562; ENSG00000165821.
GeneIDi6297.
KEGGihsa:6297.
UCSCiuc001wbe.3. human. [Q9Y467-1]
uc001wbf.3. human.

Polymorphism databases

DMDMi296453020.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98834 mRNA. No translation available.
AB002358 mRNA. Translation: BAA21638.2. Different initiation.
AE000521 Genomic DNA. No translation available.
AE000658 Genomic DNA. No translation available.
BC024245 mRNA. Translation: AAH24245.1.
BC090958 mRNA. Translation: AAH90958.1.
BC136528 mRNA. Translation: AAI36529.1.
BC136529 mRNA. Translation: AAI36530.1.
AF465630 mRNA. Translation: AAL74188.1.
CCDSiCCDS32045.1. [Q9Y467-1]
RefSeqiNP_001278375.1. NM_001291446.1.
NP_001278376.1. NM_001291447.1.
NP_005398.2. NM_005407.2.
UniGeneiHs.416358.
Hs.745364.

3D structure databases

ProteinModelPortaliQ9Y467.
SMRiQ9Y467. Positions 367-423, 621-687, 691-717, 909-971.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112204. 18 interactions.
IntActiQ9Y467. 6 interactions.
MINTiMINT-4658260.
STRINGi9606.ENSP00000333537.

PTM databases

PhosphoSiteiQ9Y467.

Polymorphism databases

DMDMi296453020.

Proteomic databases

MaxQBiQ9Y467.
PaxDbiQ9Y467.
PeptideAtlasiQ9Y467.
PRIDEiQ9Y467.

Protocols and materials databases

DNASUi6297.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000614342; ENSP00000483562; ENSG00000165821.
GeneIDi6297.
KEGGihsa:6297.
UCSCiuc001wbe.3. human. [Q9Y467-1]
uc001wbf.3. human.

Organism-specific databases

CTDi6297.
GeneCardsiGC14M021989.
HGNCiHGNC:10526. SALL2.
HPAiHPA004162.
MIMi602219. gene.
neXtProtiNX_Q9Y467.
Orphaneti194. Ocular coloboma.
PharmGKBiPA34934.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG294998.
GeneTreeiENSGT00550000074555.
HOGENOMiHOG000231986.
HOVERGENiHBG058921.
InParanoidiQ9Y467.
OrthoDBiEOG7353W3.
PhylomeDBiQ9Y467.
TreeFamiTF317003.

Miscellaneous databases

ChiTaRSiSALL2. human.
GeneWikiiSALL2.
GenomeRNAii6297.
NextBioi24449.
PROiQ9Y467.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y467.
CleanExiHS_SALL2.
GenevestigatoriQ9Y467.

Family and domain databases

Gene3Di3.30.160.60. 4 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 7 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 7 hits.
PS50157. ZINC_FINGER_C2H2_2. 7 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt."
    Kohlhase J., Schuh R., Dowe G., Kuehnlein R.P., Jaeckle H., Schroeder B., Schulz-Schaeffer W., Kretzschmar H.A., Koehler A., Mueller U., Raab-Vetter M., Burkhardt E., Engel W., Stick R.
    Genomics 38:291-298(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS SER-122 AND ARG-746.
    Tissue: Fetus.
  2. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS SER-122 AND ARG-746.
    Tissue: Brain.
  3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  4. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    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 1 AND 2), VARIANT SER-122.
    Tissue: Brain.
  6. "Homo sapiens mRNA for zinc finger protein, SALL2 exon 2."
    Morgan J.W., Ford D., Ma Y., Maizel A.L.
    Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 541-1005 (ISOFORM 1), VARIANT ARG-746.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Proteomic analysis of ubiquitinated proteins in normal hepatocyte cell line Chang liver cells."
    Tan F., Lu L., Cai Y., Wang J., Xie Y., Wang L., Gong Y., Xu B.-E., Wu J., Luo Y., Qiang B., Yuan J., Sun X., Peng X.
    Proteomics 8:2885-2896(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-911.
    Tissue: Cervix carcinoma.
  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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-797; SER-802 AND SER-806, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  11. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-243; SER-802 AND SER-806, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSALL2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y467
Secondary accession number(s): B2RMX6
, B9EGK8, Q8N656, Q9Y4G1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 18, 2010
Last modified: February 4, 2015
This is version 129 of the entry and version 4 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 14
    Human chromosome 14: 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

External Data

Dasty 3

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 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.