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Q5SYE7 (NHSL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
NHS-like protein 1
Gene names
Name:NHSL1
Synonyms:C6orf63, KIAA1357
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1610 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

Widely expressed. Expressed in adult and fetal brain, fetal eyes, adult lens, kidney, liver and intestine. Ref.5

Sequence similarities

Belongs to the NHS family.

Sequence caution

The sequence CAI12098.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI12099.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI14156.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI14157.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5SYE7-1)

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.
Isoform 2 (identifier: Q5SYE7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: MKKEGSSGSF...WIYRAQPRKA → MVVFINAKIKSLIKLFKKKT
     225-225: T → TGENFDRQASLRRSLIYTDTLVRRPKKVKRRKTITGVPDNIQKEL

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16101610NHS-like protein 1
PRO_0000341353

Regions

Compositional bias894 – 91825Ser-rich
Compositional bias926 – 1070145Pro-rich

Amino acid modifications

Modified residue11671Phosphoserine Ref.7
Modified residue13861Phosphoserine Ref.7 Ref.10
Modified residue13881Phosphoserine Ref.7 Ref.10
Modified residue13921Phosphothreonine Ref.7

Natural variations

Alternative sequence1 – 6868MKKEG…QPRKA → MVVFINAKIKSLIKLFKKKT in isoform 2.
VSP_040818
Alternative sequence2251T → TGENFDRQASLRRSLIYTDT LVRRPKKVKRRKTITGVPDN IQKEL in isoform 2.
VSP_040819
Natural variant10851V → M.
Corresponds to variant rs3734305 [ dbSNP | Ensembl ].
VAR_044055
Natural variant15851G → S. Ref.4
Corresponds to variant rs11540147 [ dbSNP | Ensembl ].
VAR_044056

Experimental info

Sequence conflict14871E → S in AAH45181. Ref.4
Sequence conflict16081E → K in AAH45181. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 10, 2008. Version 2.
Checksum: 1E986A2304C5E4E5

FASTA1,610170,668
        10         20         30         40         50         60 
MKKEGSSGSF RLQPNTGSLS RAVSWINFSS LSRQTKRLFR SDGELSVCGQ QVEVDDENWI 

        70         80         90        100        110        120 
YRAQPRKAVS NLDEESRWTV HYTAPWHQQE NVFLPTTRPP CVEDLHRQAK LNLKSVLREC 

       130        140        150        160        170        180 
DKLRHDGYRS SQYYSQGPTF AANASPFCDD YQDEDEETDQ KCSLSSSEEE RFISIRRPKT 

       190        200        210        220        230        240 
PASSDFSDLN TQTNWTKSLP LPTPEEKMRQ QAQTVQADVV PINITASGTG QDDADGHSVY 

       250        260        270        280        290        300 
TPDHYSTLGR FNSCRSAGQR SETRDSSCQT EDVKVVPPSM RRIRAQKGQG IAAQMGHFSG 

       310        320        330        340        350        360 
SSGNMSVLSD SAGIVFPSRL DSDAGFHSLP RSGARANIQS LEPRLGALGP AGDMNGTFLY 

       370        380        390        400        410        420 
QRGHPQADEN LGHLGGASGT GTLLRPKSQE LRHFESENIM SPACVVSPHA TYSTSIIPNA 

       430        440        450        460        470        480 
TLSSSSEVIA IPTAQSAGQR ESKSSGSSHA RIKSRDHLIS RHAVKGDPQS PGRHWNEGHA 

       490        500        510        520        530        540 
TILSQDLDPH SPGEPALLSL CDSAVPLNAP ANRENGSQAM PYNCRNNLAF PAHPQDVDGK 

       550        560        570        580        590        600 
SESSYSGGGG HSSSEPWEYK SSGNGRASPL KPHLATPGYS TPTSNMSSCS LDQTSNKEDA 

       610        620        630        640        650        660 
GSLYSEDHDG YCASVHTDSG HGSGNLCNSS DGFGNPRHSV INVFVGRAQK NQGDRSNYQD 

       670        680        690        700        710        720 
KSLSRNISLK KAKKPPLPPS RTDSLRRIPK KSSQCNGQVL NESLIATLQH SLQLSLPGKS 

       730        740        750        760        770        780 
GSSPSQSPCS DLEEPWLPRS RSQSTVSAGS SMTSATTPNV YSLCGATPSQ SDTSSVKSEY 

       790        800        810        820        830        840 
TDPWGYYIDY TGMQEDPGNP AGGCSTSSGV PTGNGPVRHV QEGSRATMPQ VPGGSVKPKI 

       850        860        870        880        890        900 
MSPEKSHRVI SPSSGYSSQS NTPTALTPVP VFLKSVSPAN GKGKPKPKVP ERKSSLISSV 

       910        920        930        940        950        960 
SISSSSTSLS SSTSTEGSGT MKKLDPAVGS PPAPPPPPVP SPPFPCPADR SPFLPPPPPV 

       970        980        990       1000       1010       1020 
TDCSQGSPLP HSPVFPPPPP EALIPFCSPP DWCLSPPRPA LSPILPDSPV SLPLPPPLLP 

      1030       1040       1050       1060       1070       1080 
SSEPPPAPPL DPKFMKDTRP PFTNSGQPES SRGSLRPPST KEETSRPPMP LITTEALQMV 

      1090       1100       1110       1120       1130       1140 
QLRPVRKNSG AEAAQLSERT AQEQRTPVAP QYHLKPSAFL KSRNSTNEME SESQPASVTS 

      1150       1160       1170       1180       1190       1200 
SLPTPAKSSS QGDHGSAAER GGPVSRSPGA PSAGEAEARP SPSTTPLPDS SPSRKPPPIS 

      1210       1220       1230       1240       1250       1260 
KKPKLFLVVP PPQKDFAVEP AENVSEALRA VPSPTTGEEG SVHSREAKES SAAQAGSHAT 

      1270       1280       1290       1300       1310       1320 
HPGTSVLEGG AAGSMSPSRV EANVPMVQPD VSPAPKQEEP AENSADTGGD GESCLSQQDG 

      1330       1340       1350       1360       1370       1380 
AAGVPETNAA GSSSEACDFL KEDGNDEVMT PSRPRTTEDL FAAIHRSKRK VLGRRDSDDD 

      1390       1400       1410       1420       1430       1440 
HSRNHSPSPP VTPTGAAPSL ASPKQVGSIQ RSIRKSSTSS DNFKALLLKK GSRSDTSARM 

      1450       1460       1470       1480       1490       1500 
SAAEMLKNTD PRFQRSRSEP SPDAPESPSS CSPSKNRRAQ EEWAKNEGLM PRSLSFSGPR 

      1510       1520       1530       1540       1550       1560 
YGRSRTPPSA ASSRYSMRNR IQSSPMTVIS EGEGEAVEPV DSIARGALGA AEGCSLDGLA 

      1570       1580       1590       1600       1610 
REEMDEGGLL CGEGPAASLQ PQAPGPVDGT ASAEGREPSP QCGGSLSEES 

« Hide

Isoform 2 [UniParc].

Checksum: 6CD70FAD11BAA616
Show »

FASTA1,606170,477

References

« Hide 'large scale' references
[1]"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. expand/collapse author list , 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).
[2]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.
DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 775-1610.
[4]"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] OF 1487-1610, VARIANT SER-1585.
Tissue: Brain.
[5]"Identification of the gene for Nance-Horan syndrome (NHS)."
Brooks S.P., Ebenezer N.D., Poopalasundaram S., Lehmann O.J., Moore A.T., Hardcastle A.J.
J. Med. Genet. 41:768-771(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION, TISSUE SPECIFICITY.
[6]"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1167; SER-1386; SER-1388 AND THR-1392, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"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].
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"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-1386 AND SER-1388, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK307584 mRNA. No translation available.
AL591375, AL391669 Genomic DNA. Translation: CAI12098.1. Sequence problems.
AL591375, AL391669 Genomic DNA. Translation: CAI12099.1. Sequence problems.
AL391669, AL591375 Genomic DNA. Translation: CAI14156.1. Sequence problems.
AL391669, AL591375 Genomic DNA. Translation: CAI14157.1. Sequence problems.
AB037778 mRNA. Translation: BAA92595.1.
BC045181 mRNA. Translation: AAH45181.1.
RefSeqNP_001137532.1. NM_001144060.1.
NP_065197.1. NM_020464.1.
UniGeneHs.652741.

3D structure databases

ProteinModelPortalQ5SYE7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000344672.

PTM databases

PhosphoSiteQ5SYE7.

Polymorphism databases

DMDM190360005.

Proteomic databases

PaxDbQ5SYE7.
PRIDEQ5SYE7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000343505; ENSP00000344672; ENSG00000135540. [Q5SYE7-2]
ENST00000427025; ENSP00000394546; ENSG00000135540. [Q5SYE7-1]
GeneID57224.
KEGGhsa:57224.
UCSCuc003qhx.3. human. [Q5SYE7-1]
uc011edp.2. human. [Q5SYE7-2]

Organism-specific databases

CTD57224.
GeneCardsGC06M138743.
HGNCHGNC:21021. NHSL1.
HPAHPA029966.
neXtProtNX_Q5SYE7.
PharmGKBPA134929320.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40758.
HOGENOMHOG000113783.
HOVERGENHBG108185.
OMAPPQRDFT.
OrthoDBEOG741Z1J.
PhylomeDBQ5SYE7.
TreeFamTF333323.

Gene expression databases

ArrayExpressQ5SYE7.
BgeeQ5SYE7.
CleanExHS_NHSL1.
GenevestigatorQ5SYE7.

Family and domain databases

InterProIPR024845. NHS_fam.
[Graphical view]
PANTHERPTHR23039. PTHR23039. 1 hit.
PfamPF15273. NHS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNHSL1. human.
GenomeRNAi57224.
NextBio63359.
PROQ5SYE7.

Entry information

Entry nameNHSL1_HUMAN
AccessionPrimary (citable) accession number: Q5SYE7
Secondary accession number(s): Q3ZCS5, Q5SYE8, Q9P2J0
Entry history
Integrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: April 16, 2014
This is version 68 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM