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Q5H8C1 (FREM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
FRAS1-related extracellular matrix protein 1
Alternative name(s):
Protein QBRICK
Gene names
Name:FREM1
Synonyms:C9orf143, C9orf145, C9orf154
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2179 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development By similarity.

Subcellular location

Secretedextracellular spaceextracellular matrixbasement membrane By similarity. Note: Localizes at the basement membrane zone of embryonic epidermis and hair follicles By similarity.

Domain

The Calx-beta domain binds calcium with high affinity and undergo a major conformational shift upon binding By similarity.

Involvement in disease

Bifid nose, with or without anorectal and renal anomalies (BNAR) [MIM:608980]: A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]: A rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Trigonocephaly 2 (TRIGNO2) [MIM:614485]: A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Miscellaneous

Was termed QBRICK because it contains 12 repeats: 'Q' stands for queen and is taken from the queen being the 12th in a suit of playing card, and 'BRICK' stands for the repeating unit.

Sequence similarities

Belongs to the FRAS1 family.

Contains 1 C-type lectin domain.

Contains 1 Calx-beta domain.

Contains 12 CSPG (NG2) repeats.

Sequence caution

The sequence AAH31064.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAH71826.2 differs from that shown. Reason: Erroneous gene model prediction.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5H8C1-1)

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: Q5H8C1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1464: Missing.
     1465-1480: VCYVHKSKVTVSSDRF → MVTQESMLKAALPLFT
Note: No experimental confirmation available.
Isoform 3 (identifier: Q5H8C1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1803: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q5H8C1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1587: Missing.
     1588-1619: TDCFTFMATDGTNQGFIVNGRVWEEPVLFTIQ → MLDESLAVRRSKKCKEMIMHWEKKEDIDIVNT
     1804-1809: MSTKMW → SSILCL
     1810-2179: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 21792158FRAS1-related extracellular matrix protein 1
PRO_0000010122

Regions

Repeat275 – 394120CSPG 1
Repeat395 – 502108CSPG 2
Repeat503 – 621119CSPG 3
Repeat622 – 758137CSPG 4
Repeat759 – 869111CSPG 5
Repeat870 – 1005136CSPG 6
Repeat1006 – 1129124CSPG 7
Repeat1130 – 1256127CSPG 8
Repeat1257 – 1375119CSPG 9
Repeat1376 – 1487112CSPG 10
Repeat1488 – 1608121CSPG 11
Repeat1609 – 1729121CSPG 12
Domain1731 – 1830100Calx-beta
Domain2060 – 2174115C-type lectin
Motif199 – 2013Cell attachment site By similarity
Motif1907 – 19093Cell attachment site Potential

Amino acid modifications

Glycosylation3351N-linked (GlcNAc...) Potential
Glycosylation5601N-linked (GlcNAc...) Potential
Glycosylation6221N-linked (GlcNAc...) Potential
Glycosylation10141N-linked (GlcNAc...) Potential
Glycosylation15661N-linked (GlcNAc...) Potential
Disulfide bond2151 ↔ 2165 By similarity

Natural variations

Alternative sequence1 – 18031803Missing in isoform 3.
VSP_015025
Alternative sequence1 – 15871587Missing in isoform 4.
VSP_015026
Alternative sequence1 – 14641464Missing in isoform 2.
VSP_047283
Alternative sequence1465 – 148016VCYVH…SSDRF → MVTQESMLKAALPLFT in isoform 2.
VSP_047284
Alternative sequence1588 – 161932TDCFT…LFTIQ → MLDESLAVRRSKKCKEMIMH WEKKEDIDIVNT in isoform 4.
VSP_015029
Alternative sequence1804 – 18096MSTKMW → SSILCL in isoform 4.
VSP_015030
Alternative sequence1810 – 2179370Missing in isoform 4.
VSP_015031
Natural variant4391V → L. Ref.1
Corresponds to variant rs2779500 [ dbSNP | Ensembl ].
VAR_047317
Natural variant4981R → Q in TRIGNO2. Ref.8
Corresponds to variant rs184394424 [ dbSNP | Ensembl ].
VAR_067916
Natural variant4991I → V.
Corresponds to variant rs1353223 [ dbSNP | Ensembl ].
VAR_047318
Natural variant6491R → W in BNAR. Ref.6
Corresponds to variant rs121912609 [ dbSNP | Ensembl ].
VAR_063422
Natural variant8031S → Y.
Corresponds to variant rs7023244 [ dbSNP | Ensembl ].
VAR_047319
Natural variant8631L → V. Ref.1
Corresponds to variant rs7041710 [ dbSNP | Ensembl ].
VAR_047320
Natural variant12021S → R.
Corresponds to variant rs16932300 [ dbSNP | Ensembl ].
VAR_047321
Natural variant12731D → E.
Corresponds to variant rs7025814 [ dbSNP | Ensembl ].
VAR_047322
Natural variant13241L → R in MOTA. Ref.7
Corresponds to variant rs281875281 [ dbSNP | Ensembl ].
VAR_066412
Natural variant14401G → S in BNAR. Ref.6
Corresponds to variant rs121912610 [ dbSNP | Ensembl ].
VAR_063423
Natural variant15001E → V in TRIGNO2. Ref.8
Corresponds to variant rs281875280 [ dbSNP | Ensembl ].
VAR_067917
Natural variant15021V → M.
Corresponds to variant rs10961700 [ dbSNP | Ensembl ].
VAR_047323
Natural variant15761N → I.
Corresponds to variant rs2101770 [ dbSNP | Ensembl ].
VAR_047324
Natural variant20911V → I in MOTA. Ref.7
Corresponds to variant rs281875282 [ dbSNP | Ensembl ].
VAR_066413
Natural variant21431Q → P. Ref.1 Ref.5
Corresponds to variant rs10961689 [ dbSNP | Ensembl ].
VAR_047325
Natural variant21741V → G. Ref.5
Corresponds to variant rs17856912 [ dbSNP | Ensembl ].
VAR_047326

Experimental info

Sequence conflict17351I → N in AAH31064. Ref.5
Sequence conflict18611S → A in CAE46048. Ref.3

Sequences

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

Last modified November 25, 2008. Version 3.
Checksum: 9C1C464DF95D2194

FASTA2,179244,154
        10         20         30         40         50         60 
MNSLSWGAAN AVLLLLLLAW ASPTFISINR GVRVMKGHSA FLSGDDLKFA IPKEKDACKV 

        70         80         90        100        110        120 
EVVMNEPITQ RVGKLTPQVF DCHFLPNEVK YVHNGCPILD EDTVKLRLYR FTERDTFIET 

       130        140        150        160        170        180 
FILWVYLLEP DCNIIHMSNN VLEVPEFNGL SQAIDKNLLR FDYDRMASLE CTVSLDTART 

       190        200        210        220        230        240 
RLPAHGQMVL GEPRPEEPRG DQPHSFFPES QLRAKLKCPG GSCTPGLKKI GSLKVSCEEF 

       250        260        270        280        290        300 
LLMGLRYQHL DPPSPNIDYI SIQLDLTDTR SKIVYKSESA WLPVYIRAGI PNQIPKAAFM 

       310        320        330        340        350        360 
AVFILEVDQF ILTSLTTSVL DCEEDETPKP LLVFNITKAP LQGYVTHLLD HTRPISSFTW 

       370        380        390        400        410        420 
KDLSDMQIAY QPPNSSHSER RHDEVELEVY DFFFERSAPM TVHISIRTAD TNAPRVSWNT 

       430        440        450        460        470        480 
GLSLLEGQSR AITWEQFQVV DNDDIGAVRL VTVGGLQHGW LTLRGGKGFL FTVADLQAGV 

       490        500        510        520        530        540 
VRYHHDDSDS TKDFVVFRIF DGHHSIRHKF PINVLPKDDS PPFLITNVVI ELEEGQTILI 

       550        560        570        580        590        600 
QGSMLRASDV DASDDYIFFN ITKPPQAGEI MKKPGPGLIG YPVHGFLQRD LFNGIIYYRH 

       610        620        630        640        650        660 
FGGEIFEDSF QFVLWDSHEP PNLSVPQVAT IHITPVDDQL PKEAPGVSRH LVVKETEVAY 

       670        680        690        700        710        720 
ITKKQLHFID SESYDRELVY TITTPPFFSF SHRHLDAGKL FMVDSIPKVV KNPTALELRS 

       730        740        750        760        770        780 
FTQHAVNYMK VAYMPPMQDI GPHCRDVQFT FSVSNQHGGT LHGICFNITI LPVDNQVPEA 

       790        800        810        820        830        840 
FTNPLKVTEG GQSIISTEHI LISDADTKLD NIDLSLRELP LHGRVELNGF PLNSGGTFSW 

       850        860        870        880        890        900 
GDLHTLKVRY QHDGTEVLQD DLLLEVTDGT NSAEFVLHVE VFPVNDEPPV LKADLMPVMN 

       910        920        930        940        950        960 
CSEGGEVVIT SEYIFATDVD SDNLKLMFVI AREPQHGVVR RAGVTVDQFS QRDVISEAVT 

       970        980        990       1000       1010       1020 
YKHTGGEIGL MPCFDTITLV VSDGEAGPFV NGCCYNGPNP SVPLHASFPV YDLNITVYPV 

      1030       1040       1050       1060       1070       1080 
DNQPPSIAIG PVFVVDEGCS TALTVNHLSA TDPDTAADDL EFVLVSPPQF GYLENILPSV 

      1090       1100       1110       1120       1130       1140 
GFEKSNIGIS IDSFQWKDMN AFHINYVQSR HLRIEPTADQ FTVYVTDGKH HSLEIPFSII 

      1150       1160       1170       1180       1190       1200 
INPTNDEAPD FVVQNITVCE GQMKELDSSI ISAVDLDIPQ DALLFSITQK PRHGLLIDRG 

      1210       1220       1230       1240       1250       1260 
FSKDFSENKQ PANPHQKHAP VHSFSMELLK TGMRLTYMHD DSESLADDFT IQLSDGKHKI 

      1270       1280       1290       1300       1310       1320 
LKTISVEVIP VNDEKPMLSK KAEIAMNMGE TRIISSAILS AIDEDSPREK IYYVFERLPQ 

      1330       1340       1350       1360       1370       1380 
NGQLQLKIGR DWVPLSPGMK CTQEEVDLNL LRYTHTGAMD SQNQDSFTFY LWDGNNRSPA 

      1390       1400       1410       1420       1430       1440 
LDCQITIKDM EKGDIVILTK PLVVSKGDRG FLTTTTLLAV DGTDKPEELL YVITSPPRYG 

      1450       1460       1470       1480       1490       1500 
QIEYVHYPGV PITNFSQMDV VGQTVCYVHK SKVTVSSDRF RFIISNGLRT EHGVFEITLE 

      1510       1520       1530       1540       1550       1560 
TVDRALPVVT RNKGLRLAQG AVGLLSPDLL QLTDPDTPAE NLTFLLVQLP QHGQLYLWGT 

      1570       1580       1590       1600       1610       1620 
GLLQHNFTQQ DVDSKNVAYR HSGGDSQTDC FTFMATDGTN QGFIVNGRVW EEPVLFTIQV 

      1630       1640       1650       1660       1670       1680 
DQLDKTAPRI TLLHSPSQVG LLKNGCYGIY ITSRVLKASD PDTEDDQIIF KILQGPKHGH 

      1690       1700       1710       1720       1730       1740 
LENTTTGEFI HEKFSQKDLN SKTILYIINP SLEVNSDTVE FQIMDPTGNS ATPQILELKW 

      1750       1760       1770       1780       1790       1800 
SHIEWSQTEY EVCENVGLLP LEIIRRGYSM DSAFVGIKVN QVSAAVGKDF TVIPSKLIQF 

      1810       1820       1830       1840       1850       1860 
DPGMSTKMWN IAITYDGLEE DDEVFEVILN SPVNAVLGTK TKAAVKILDS KGGQCHPSYS 

      1870       1880       1890       1900       1910       1920 
SNQSKHSTWE KGIWHLLPPG SSSSTTSGSF HLERRPLPSS MQLAVIRGDT LRGFDSTDLS 

      1930       1940       1950       1960       1970       1980 
QRKLRTRGNG KTVRPSSVYR NGTDIIYNYH GIVSLKLEDD SFPTHKRKAK VSIISQPQKT 

      1990       2000       2010       2020       2030       2040 
IKVAELPQAD KVESTTDSHF PRQDQLPSFP KNCTLELKGL FHFEEGIQKL YQCNGIAWKA 

      2050       2060       2070       2080       2090       2100 
WSPQTKDVED KSCPAGWHQH SGYCHILITE QKGTWNAAAQ ACREQYLGNL VTVFSRQHMR 

      2110       2120       2130       2140       2150       2160 
WLWDIGGRKS FWIGLNDQVH AGHWEWIGGE PVAFTNGRRG PSQRSKLGKS CVLVQRQGKW 

      2170 
QTKDCRRAKP HNYVCSRKL 

« Hide

Isoform 2 [UniParc].

Checksum: 6C5535B7ADD46BAA
Show »

FASTA71580,212
Isoform 3 [UniParc].

Checksum: 5EA052AFC7866A1D
Show »

FASTA37642,501
Isoform 4 [UniParc].

Checksum: 33B5711E265D3BF4
Show »

FASTA22225,008

References

« Hide 'large scale' references
[1]"Identification of a novel cell-adhesive protein spatiotemporally expressed in the basement membrane of mouse developing hair follicle."
Kiyozumi D., Osada A., Sugimoto N., Weber C.N., Ono Y., Imai T., Okada A., Sekiguchi K.
Exp. Cell Res. 306:9-23(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS LEU-439; VAL-863 AND PRO-2143.
[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. 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 4).
Tissue: Testis.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Fetal kidney.
[4]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [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] (ISOFORM 2), VARIANTS PRO-2143 AND GLY-2174.
Tissue: Testis.
[6]"FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome."
Alazami A.M., Shaheen R., Alzahrani F., Snape K., Saggar A., Brinkmann B., Bavi P., Al-Gazali L.I., Alkuraya F.S.
Am. J. Hum. Genet. 85:414-418(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BNAR TRP-649 AND SER-1440.
[7]"Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1."
Slavotinek A.M., Baranzini S.E., Schanze D., Labelle-Dumais C., Short K.M., Chao R., Yahyavi M., Bijlsma E.K., Chu C., Musone S., Wheatley A., Kwok P.Y., Marles S., Fryns J.P., Maga A.M., Hassan M.G., Gould D.B., Madireddy L. expand/collapse author list , Li C., Cox T.C., Smyth I., Chudley A.E., Zenker M.
J. Med. Genet. 48:375-382(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MOTA ARG-1324 AND ILE-2091.
[8]"Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice."
Vissers L.E.L.M., Cox T.C., Maga A.M., Short K.M., Wiradjaja F., Janssen I.M., Jehee F., Bertola D., Liu J., Yagnik G., Sekiguchi K., Kiyozumi D., van Bokhoven H., Marcelis C., Cunningham M.L., Anderson P.J., Boyadjiev S.A., Passos-Bueno M.R. expand/collapse author list , Veltman J.A., Smyth I., Buckley M.F., Roscioli T.
PLoS Genet. 7:E1002278-E1002278(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS TRIGNO2 GLN-498 AND VAL-1500.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB160987 mRNA. Translation: BAD89015.1.
AK058190 mRNA. Translation: BAB71709.1.
BX641104 mRNA. Translation: CAE46048.1.
AL354672 Genomic DNA. No translation available.
AL512643, AL390732 Genomic DNA. Translation: CAH71826.2. Sequence problems.
AL390732, AL512643 Genomic DNA. Translation: CAH73848.1.
BC031064 mRNA. Translation: AAH31064.2. Different initiation.
RefSeqNP_001171175.1. NM_001177704.1.
NP_659403.4. NM_144966.5.
XP_005251439.1. XM_005251382.2.
XP_005251441.1. XM_005251384.2.
UniGeneHs.50850.

3D structure databases

ProteinModelPortalQ5H8C1.
SMRQ5H8C1. Positions 861-921, 1012-1054, 1134-1177, 1248-1278, 1479-1547, 1741-1851, 2052-2177.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127670. 1 interaction.
STRING9606.ENSP00000413394.

PTM databases

PhosphoSiteQ5H8C1.

Polymorphism databases

DMDM215274141.

Proteomic databases

PaxDbQ5H8C1.
PRIDEQ5H8C1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000380880; ENSP00000370262; ENSG00000164946. [Q5H8C1-1]
ENST00000380894; ENSP00000370278; ENSG00000164946. [Q5H8C1-2]
ENST00000422223; ENSP00000412940; ENSG00000164946. [Q5H8C1-1]
ENST00000427623; ENSP00000412597; ENSG00000164946. [Q5H8C1-4]
GeneID158326.
KEGGhsa:158326.
UCSCuc003zlm.3. human. [Q5H8C1-1]

Organism-specific databases

CTD158326.
GeneCardsGC09M014730.
HGNCHGNC:23399. FREM1.
MIM248450. phenotype.
608944. gene.
608980. phenotype.
614485. phenotype.
neXtProtNX_Q5H8C1.
Orphanet217266. BNAR syndrome.
2140. Congenital diaphragmatic hernia.
3366. Isolated trigonocephaly.
2717. Oculotrichoanal syndrome.
PharmGKBPA134892147.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000231310.
HOVERGENHBG080222.
InParanoidQ5H8C1.
OrthoDBEOG751NDJ.
PhylomeDBQ5H8C1.
TreeFamTF316876.

Gene expression databases

ArrayExpressQ5H8C1.
BgeeQ5H8C1.
CleanExHS_FREM1.
GenevestigatorQ5H8C1.

Family and domain databases

Gene3D3.10.100.10. 1 hit.
InterProIPR001304. C-type_lectin.
IPR016186. C-type_lectin-like.
IPR016187. C-type_lectin_fold.
IPR003644. Calx_beta.
[Graphical view]
PfamPF03160. Calx-beta. 1 hit.
PF00059. Lectin_C. 1 hit.
[Graphical view]
SMARTSM00034. CLECT. 1 hit.
[Graphical view]
SUPFAMSSF56436. SSF56436. 1 hit.
PROSITEPS50041. C_TYPE_LECTIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFREM1.
GenomeRNAi158326.
NextBio87697.
PROQ5H8C1.
SOURCESearch...

Entry information

Entry nameFREM1_HUMAN
AccessionPrimary (citable) accession number: Q5H8C1
Secondary accession number(s): B7ZBX4 expand/collapse secondary AC list , Q5VV00, Q5VV01, Q6MZI4, Q8NEG9, Q96LI3
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: November 25, 2008
Last modified: April 16, 2014
This is version 100 of the entry and version 3 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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 9

Human chromosome 9: entries, gene names and cross-references to MIM