Cell Biology Antibodies 6

Anti-KIF7 Antibody (CAB15581)

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SKU:
CAB15581
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-KIF7 Antibody
Antibody SKU:CAB15581
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1044-1343 of human KIF7 (NP_940927.2).
Application:WB
Recommended Dilution:WB 1:200 - 1:2000
Reactivity:Human
Positive Samples:Jurkat, LO2, A-549
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1044-1343 of human KIF7 (NP_940927.2).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:QLDE AIEA LDAA IEYK NEAI TCRQ RVLR ASAS LLSQ CEMN LMAK LSYL SSSE TRAL LCKY FDKV VTLR EEQH QQQI AFSE LEMQ LEEQ QRLV YWLE VALE RQRL EMDR QLTL QQKE HEQN MQLL LQQS RDHL GEGL ADSR RQYE ARIQ ALEK ELGR YMWI NQEL KQKL GGVN AVGH SRGG EKRS LCSE GRQA PGNE DELH LAPE LLWL SPLT EGAP RTRE ETRD LVHA PLPL TWKR SSLC GEEQ GSPE ELRQ REAA EPLV GRVL PVGE AGLP WNFG PLSK PRRE LRRA SPGM IDVR KNPL
Gene ID:374654
Uniprot:Q2M1P5
Cellular Location:Cell projection, cilium
Calculated MW:150kDa
Observed MW:150kDa
Synonyms:KIF7, ACLS, AGBK, HLS2, JBTS12, UNQ340
Background:This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies.
UniProt Protein Function:KIF7: Acts as both a negative and positive regulator of sonic hedgehog (Shh) pathway, acting downstream of SMO. Negatively regulates the pathway by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates the pathway by preventing the processing of the transcription factor GLI3 into its repressor form. Required for efficient localization of GLI3 to cilia in response to Shh. Affects microtubular dynamics and acts as a ciliary motor. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and hydrolethalus syndrome among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. Primary ciliopathy loci can be modulated by pathogenic lesions in other ciliary genes to either exacerbate overall severity or induce specific endophenotypes. KIF7 may be causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum. Defects in KIF7 may be a cause of Bardet-Biedl syndrome (BBS). A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity. Defects in KIF7 are the cause of hydrolethalus syndrome type 2 (HLS2). HLS2 is an embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. Defects in KIF7 are the cause of acrocallosal syndrome (ACLS). ACLS is a syndrome that is characterized by postaxial polydactyly, hallux duplication, macrocephaly and absence of the corpus callosum, usually with severe developmental delay. Defects in KIF7 are the cause of Joubert syndrome type 12 (JBTS12). JBTS12 is a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Defects in KIF7 may be a cause of Pallister-Hall syndrome (PHS). An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. Belongs to the kinesin-like protein family. KIF27 subfamily.
UniProt Protein Details:

Protein type:Motor; Microtubule-binding

Chromosomal Location of Human Ortholog: 15q26.1

Cellular Component: kinesin complex; cilium

Molecular Function:protein binding; microtubule binding; ATPase activity; microtubule motor activity; ATP binding

Biological Process: smoothened signaling pathway; ventricular system development; metabolic process; negative regulation of smoothened signaling pathway; positive regulation of smoothened signaling pathway; microtubule-based movement

Disease: Acrocallosal Syndrome; Hydrolethalus Syndrome 2

NCBI Summary:This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]
UniProt Code:Q2M1P5
NCBI GenInfo Identifier:203096856
NCBI Gene ID:374654
NCBI Accession:NP_940927.2
UniProt Secondary Accession:Q2M1P5,Q3SXY0, Q6UXE9, Q8IW72,
UniProt Related Accession:Q2M1P5
Molecular Weight:150,587 Da
NCBI Full Name:kinesin-like protein KIF7
NCBI Synonym Full Names:kinesin family member 7
NCBI Official Symbol:KIF7  
NCBI Official Synonym Symbols:ACLS; HLS2; JBTS12; UNQ340  
NCBI Protein Information:kinesin-like protein KIF7
UniProt Protein Name:Kinesin-like protein KIF7
Protein Family:Kinesin-like protein
UniProt Gene Name:KIF7  
UniProt Entry Name:KIF7_HUMAN
Anti-KIF7 Antibody (CAB15581)Western blot analysis of extracts of various cell lines, using KIF7 antibody (CAB15581) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 5s.
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