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Q9NSC2

- SALL1_HUMAN

UniProt

Q9NSC2 - SALL1_HUMAN

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Protein
Sal-like protein 1
Gene
SALL1, SAL1, ZNF794
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Transcriptional repressor involved in organogenesis By similarity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri449 – 47123C2H2-type 1
Add
BLAST
Zinc fingeri477 – 49923C2H2-type 2
Add
BLAST
Zinc fingeri706 – 72823C2H2-type 3
Add
BLAST
Zinc fingeri734 – 75623C2H2-type 4
Add
BLAST
Zinc fingeri766 – 78823C2H2-type 5
Add
BLAST
Zinc fingeri1001 – 102323C2H2-type 6
Add
BLAST
Zinc fingeri1029 – 105123C2H2-type 7
Add
BLAST
Zinc fingeri1134 – 115623C2H2-type 8
Add
BLAST
Zinc fingeri1162 – 118423C2H2-type 9
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. beta-catenin binding Source: UniProtKB
  3. chromatin binding Source: Ensembl
  4. metal ion binding Source: UniProtKB-KW
  5. protein binding Source: UniProtKB
  6. sequence-specific DNA binding transcription factor activity Source: UniProtKB

GO - Biological processi

  1. adrenal gland development Source: UniProtKB
  2. branching involved in ureteric bud morphogenesis Source: UniProtKB
  3. embryonic digestive tract development Source: UniProtKB
  4. embryonic digit morphogenesis Source: UniProtKB
  5. forelimb morphogenesis Source: Ensembl
  6. gonad development Source: UniProtKB
  7. heart development Source: UniProtKB
  8. hindlimb morphogenesis Source: Ensembl
  9. histone deacetylation Source: GOC
  10. inductive cell-cell signaling Source: UniProtKB
  11. kidney development Source: UniProtKB
  12. kidney epithelium development Source: UniProtKB
  13. limb development Source: UniProtKB
  14. mesenchymal to epithelial transition involved in metanephros morphogenesis Source: UniProtKB
  15. negative regulation of smoothened signaling pathway Source: Ensembl
  16. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  17. negative regulation of transcription, DNA-templated Source: UniProtKB
  18. neural tube closure Source: Ensembl
  19. olfactory bulb interneuron differentiation Source: UniProtKB
  20. olfactory bulb mitral cell layer development Source: UniProtKB
  21. olfactory nerve development Source: UniProtKB
  22. outer ear morphogenesis Source: UniProtKB
  23. pituitary gland development Source: UniProtKB
  24. positive regulation of Wnt signaling pathway Source: UniProtKB
  25. positive regulation of neuron differentiation Source: Ensembl
  26. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  27. positive regulation of transcription, DNA-templated Source: UniProtKB
  28. regulation of neural precursor cell proliferation Source: Ensembl
  29. transcription, DNA-templated Source: UniProtKB-KW
  30. ureteric bud development Source: UniProtKB
  31. ureteric bud invasion Source: UniProtKB
  32. ventricular septum development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Sal-like protein 1
Alternative name(s):
Spalt-like transcription factor 1
Zinc finger protein 794
Zinc finger protein SALL1
Zinc finger protein Spalt-1
Short name:
HSal1
Short name:
Sal-1
Gene namesi
Name:SALL1
Synonyms:SAL1, ZNF794
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:10524. SALL1.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. NuRD complex Source: Ensembl
  2. chromocenter Source: UniProtKB
  3. cytoplasm Source: UniProtKB
  4. heterochromatin Source: UniProtKB
  5. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Townes-Brocks syndrome (TBS) [MIM:107480]: Rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss.
Note: The disease is caused by mutations affecting the gene represented in this entry. Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS and bronchio-oto-renal syndrome. Clinical features include dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, hypospadias, and mild developmental delay. Affected individuals lack the characteristic anal or hand malformations of TBS.4 Publications

Organism-specific databases

MIMi107480. phenotype.
Orphaneti857. Townes-Brocks syndrome.
PharmGKBiPA34932.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13241324Sal-like protein 1
PRO_0000047020Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei593 – 5931Phosphoserine1 Publication
Modified residuei595 – 5951Phosphoserine1 Publication
Modified residuei941 – 9411Phosphoserine1 Publication
Modified residuei943 – 9431Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9NSC2.
PaxDbiQ9NSC2.
PRIDEiQ9NSC2.

PTM databases

PhosphoSiteiQ9NSC2.

Expressioni

Tissue specificityi

Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.

Developmental stagei

In fetal brain exclusively in neurons of the subependymal region of hypothalamus lateral to the third ventricle.

Gene expression databases

ArrayExpressiQ9NSC2.
BgeeiQ9NSC2.
CleanExiHS_SALL1.
GenevestigatoriQ9NSC2.

Organism-specific databases

HPAiHPA049829.

Interactioni

Subunit structurei

Interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2 By similarity. Interacts with FAM58A. Probably associates with NuRD histone deacetylase complex (HDAC).1 Publication

Protein-protein interaction databases

BioGridi112206. 6 interactions.
STRINGi9606.ENSP00000251020.

Structurei

3D structure databases

ProteinModelPortaliQ9NSC2.
SMRiQ9NSC2. Positions 388-502, 685-784, 999-1184.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi150 – 15910Poly-Ser
Compositional biasi160 – 1634Poly-Gly
Compositional biasi237 – 2404Poly-Gln
Compositional biasi294 – 2974Poly-Ala
Compositional biasi371 – 3755Poly-Ser
Compositional biasi1144 – 11474Poly-Ser

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG293478.
HOGENOMiHOG000231986.
HOVERGENiHBG058921.
InParanoidiQ9NSC2.
OMAiCTKNQLV.
OrthoDBiEOG7NCV2P.
PhylomeDBiQ9NSC2.
TreeFamiTF317003.

Family and domain databases

Gene3Di3.30.160.60. 9 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 9 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 9 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NSC2-1) [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

MSRRKQAKPQ HFQSDPEVAS LPRRDGDTEK GQPSRPTKSK DAHVCGRCCA     50
EFFELSDLLL HKKNCTKNQL VLIVNENPAS PPETFSPSPP PDNPDEQMND 100
TVNKTDQVDC SDLSEHNGLD REESMEVEAP VANKSGSGTS SGSHSSTAPS 150
SSSSSSSSSG GGGSSSTGTS AITTSLPQLG DLTTLGNFSV INSNVIIENL 200
QSTKVAVAQF SQEARCGGAS GGKLAVPALM EQLLALQQQQ IHQLQLIEQI 250
RHQILLLASQ NADLPTSSSP SQGTLRTSAN PLSTLSSHLS QQLAAAAGLA 300
QSLASQSASI SGVKQLPPIQ LPQSSSGNTI IPSNSGSSPN MNILAAAVTT 350
PSSEKVASSA GASHVSNPAV SSSSSPAFAI SSLLSPASNP LLPQQASANS 400
VFPSPLPNIG TTAEDLNSLS ALAQQRKSKP PNVTAFEAKS TSDEAFFKHK 450
CRFCAKVFGS DSALQIHLRS HTGERPFKCN ICGNRFSTKG NLKVHFQRHK 500
EKYPHIQMNP YPVPEHLDNI PTSTGIPYGM SIPPEKPVTS WLDTKPVLPT 550
LTTSVGLPLP PTLPSLIPFI KTEEPAPIPI SHSATSPPGS VKSDSGGPES 600
ATRNLGGLPE EAEGSTLPPS GGKSEESGMV TNSVPTASSS VLSSPAADCG 650
PAGSATTFTN PLLPLMSEQF KAKFPFGGLL DSAQASETSK LQQLVENIDK 700
KATDPNECII CHRVLSCQSA LKMHYRTHTG ERPFKCKICG RAFTTKGNLK 750
THYSVHRAMP PLRVQHSCPI CQKKFTNAVV LQQHIRMHMG GQIPNTPVPD 800
SYSESMESDT GSFDEKNFDD LDNFSDENME DCPEGSIPDT PKSADASQDS 850
LSSSPLPLEM SSIAALENQM KMINAGLAEQ LQASLKSVEN GSIEGDVLTN 900
DSSSVGGDME SQSAGSPAIS ESTSSMQALS PSNSTQEFHK SPSIEEKPQR 950
AVPSEFANGL SPTPVNGGAL DLTSSHAEKI IKEDSLGILF PFRDRGKFKN 1000
TACDICGKTF ACQSALDIHY RSHTKERPFI CTVCNRGFST KGNLKQHMLT 1050
HQMRDLPSQL FEPSSNLGPN QNSAVIPANS LSSLIKTEVN GFVHVSPQDS 1100
KDTPTSHVPS GPLSSSATSP VLLPALPRRT PKQHYCNTCG KTFSSSSALQ 1150
IHERTHTGEK PFACTICGRA FTTKGNLKVH MGTHMWNSTP ARRGRRLSVD 1200
GPMTFLGGNP VKFPEMFQKD LAARSGSGDP SSFWNQYAAA LSNGLAMKAN 1250
EISVIQNGGI PPIPGSLGSG NSSPVSGLTG NLERLQNSEP NAPLAGLEKM 1300
ASSENGTNFR FTRFVEDSKE IVTS 1324
Length:1,324
Mass (Da):140,405
Last modified:May 18, 2010 - v2
Checksum:i41AFA91ADEBEEF8C
GO
Isoform 2 (identifier: Q9NSC2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.

Show »
Length:1,227
Mass (Da):129,571
Checksum:iF972D86743DED721
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501S → SS.1 Publication
VAR_013156
Natural varianti150 – 1501Missing.1 Publication
VAR_013155
Natural varianti159 – 1591S → G.1 Publication
Corresponds to variant rs13336129 [ dbSNP | Ensembl ].
VAR_013157
Natural varianti164 – 1641Missing.1 Publication
VAR_013158
Natural varianti1265 – 12651G → E.1 Publication
Corresponds to variant rs149302006 [ dbSNP | Ensembl ].
VAR_013159

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9797Missing in isoform 2.
VSP_040502Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti79 – 791A → G in CAB41400. 1 Publication
Sequence conflicti562 – 5621T → S in CAB41400. 1 Publication
Sequence conflicti562 – 5621T → S in CAB41399. 1 Publication
Sequence conflicti1275 – 12751V → I in CAB41400. 1 Publication
Sequence conflicti1275 – 12751V → I in CAB41399. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y18265 mRNA. Translation: CAB41400.1.
Y18264, X98833 Genomic DNA. Translation: CAB41399.1.
AC009166 Genomic DNA. No translation available.
AK307835 mRNA. No translation available.
AF017655 Genomic DNA. Translation: AAB99908.1.
AF074949 Genomic DNA. Translation: AAF19263.1.
CCDSiCCDS10747.1. [Q9NSC2-1]
CCDS45483.1. [Q9NSC2-2]
RefSeqiNP_001121364.1. NM_001127892.1. [Q9NSC2-2]
NP_002959.2. NM_002968.2. [Q9NSC2-1]
XP_006721304.1. XM_006721241.1. [Q9NSC2-1]
UniGeneiHs.135787.

Genome annotation databases

EnsembliENST00000251020; ENSP00000251020; ENSG00000103449. [Q9NSC2-1]
ENST00000440970; ENSP00000407914; ENSG00000103449. [Q9NSC2-2]
GeneIDi6299.
KEGGihsa:6299.
UCSCiuc021tid.1. human. [Q9NSC2-1]

Polymorphism databases

DMDMi296452895.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y18265 mRNA. Translation: CAB41400.1 .
Y18264 , X98833 Genomic DNA. Translation: CAB41399.1 .
AC009166 Genomic DNA. No translation available.
AK307835 mRNA. No translation available.
AF017655 Genomic DNA. Translation: AAB99908.1 .
AF074949 Genomic DNA. Translation: AAF19263.1 .
CCDSi CCDS10747.1. [Q9NSC2-1 ]
CCDS45483.1. [Q9NSC2-2 ]
RefSeqi NP_001121364.1. NM_001127892.1. [Q9NSC2-2 ]
NP_002959.2. NM_002968.2. [Q9NSC2-1 ]
XP_006721304.1. XM_006721241.1. [Q9NSC2-1 ]
UniGenei Hs.135787.

3D structure databases

ProteinModelPortali Q9NSC2.
SMRi Q9NSC2. Positions 388-502, 685-784, 999-1184.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112206. 6 interactions.
STRINGi 9606.ENSP00000251020.

PTM databases

PhosphoSitei Q9NSC2.

Polymorphism databases

DMDMi 296452895.

Proteomic databases

MaxQBi Q9NSC2.
PaxDbi Q9NSC2.
PRIDEi Q9NSC2.

Protocols and materials databases

DNASUi 6299.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000251020 ; ENSP00000251020 ; ENSG00000103449 . [Q9NSC2-1 ]
ENST00000440970 ; ENSP00000407914 ; ENSG00000103449 . [Q9NSC2-2 ]
GeneIDi 6299.
KEGGi hsa:6299.
UCSCi uc021tid.1. human. [Q9NSC2-1 ]

Organism-specific databases

CTDi 6299.
GeneCardsi GC16M051217.
GeneReviewsi SALL1.
HGNCi HGNC:10524. SALL1.
HPAi HPA049829.
MIMi 107480. phenotype.
602218. gene.
neXtProti NX_Q9NSC2.
Orphaneti 857. Townes-Brocks syndrome.
PharmGKBi PA34932.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG293478.
HOGENOMi HOG000231986.
HOVERGENi HBG058921.
InParanoidi Q9NSC2.
OMAi CTKNQLV.
OrthoDBi EOG7NCV2P.
PhylomeDBi Q9NSC2.
TreeFami TF317003.

Miscellaneous databases

GeneWikii SALL1.
GenomeRNAii 6299.
NextBioi 24455.
PROi Q9NSC2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NSC2.
Bgeei Q9NSC2.
CleanExi HS_SALL1.
Genevestigatori Q9NSC2.

Family and domain databases

Gene3Di 3.30.160.60. 9 hits.
InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 9 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 9 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), DISEASE, VARIANTS SER-150 DEL; SER-150 INS AND GLY-159.
  2. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient."
    Marlin S., Blanchard S., Lacombe D., Denoyelle F., Alessandri J.-L., Calzolari E., Drouin-Garraud V., Ferraz F.G., Fourmaintraux A., Philip N., Toublanc J.E., Petit C.
    Hum. Mutat. 14:377-386(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26 (ISOFORM 1), DISEASE, VARIANTS SER-164 DEL AND GLU-1265.
  4. "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] OF 1-1058 (ISOFORM 2).
  5. "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 [GENOMIC DNA] OF 26-1324 (ISOFORM 1).
  6. "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome."
    Kohlhase J., Wischermann A., Reichenbach H., Froster U., Engel W.
    Nat. Genet. 18:81-83(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 313-345 (ISOFORM 1), DISEASE.
  7. "Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations."
    Unger S., Boehm D., Kaiser F.J., Kaulfuss S., Borozdin W., Buiting K., Burfeind P., Boehm J., Barrionuevo F., Craig A., Borowski K., Keppler-Noreuil K., Schmitt-Mechelke T., Steiner B., Bartholdi D., Lemke J., Mortier G., Sandford R.
    , Zabel B., Superti-Furga A., Kohlhase J.
    Nat. Genet. 40:287-289(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH FAM58A.
  8. "A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype."
    Engels S., Kohlhase J., McGaughran J.
    J. Med. Genet. 37:458-460(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISEASE.
  9. "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-593; SER-595; SER-941 AND SER-943, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSALL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NSC2
Secondary accession number(s): Q99881, Q9NSC3, Q9P1R0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 125 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 16
    Human chromosome 16: 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

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